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<meta name="keywords" content="C4018871, abnormality of the respiratory system, anatomical abnormality, respiratory abnormalities, respiratory abnormality, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=866322
|
||
ConceptID=C4018871
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the respiratory system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4018871</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Respiratory abnormalities</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002086">HP:0002086</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4018871[DISCUI]&test_type=Clinical" ref="ncbi_uid=866322">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=866322" ref="ncbi_uid=866322">V</a></span></span><span class="TLline">Abnormality of the respiratory system</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="matched_ds">Abnormality of the respiratory system</span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/635138" ref="tree=MeSH" title="MedGen record for Abnormal blood gas level">Abnormal blood gas level</a></span><ul><li><span class="TLline"><a href="/medgen/1701592" ref="tree=MeSH" title="MedGen record for Abnormal blood carbon dioxide level">Abnormal blood carbon dioxide level</a></span></li><li><span class="TLline"><a href="/medgen/663395" ref="tree=MeSH" title="MedGen record for Abnormal blood oxygen level">Abnormal blood oxygen level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/534078" ref="tree=MeSH" title="MedGen record for Abnormal breath sound">Abnormal breath sound</a></span><ul><li><span class="TLline"><a href="/medgen/534089" ref="tree=MeSH" title="MedGen record for Bronchial breath sound">Bronchial breath sound</a></span></li><li><span class="TLline"><a href="/medgen/11118" ref="tree=MeSH" title="MedGen record for Crackles">Crackles</a></span></li><li><span class="TLline"><a href="/medgen/536857" ref="tree=MeSH" title="MedGen record for Diminished breath sounds">Diminished breath sounds</a></span></li><li><span class="TLline"><a href="/medgen/10806" ref="tree=MeSH" title="MedGen record for Pleural rub">Pleural rub</a></span></li><li><span class="TLline"><a href="/medgen/19792" ref="tree=MeSH" title="MedGen record for Rhonchi">Rhonchi</a></span></li><li><span class="TLline"><a href="/medgen/11613" ref="tree=MeSH" title="MedGen record for Stridor">Stridor</a></span></li><li><span class="TLline"><a href="/medgen/21917" ref="tree=MeSH" title="MedGen record for Wheezing">Wheezing</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1379715" ref="tree=MeSH" title="MedGen record for Abnormal bronchus physiology">Abnormal bronchus physiology</a></span><ul><li><span class="TLline"><a href="/medgen/36266" ref="tree=MeSH" title="MedGen record for Bronchoconstriction">Bronchoconstriction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1642342" ref="tree=MeSH" title="MedGen record for Abnormal mucociliary clearance">Abnormal mucociliary clearance</a></span><ul><li><span class="TLline"><a href="/medgen/1640666" ref="tree=MeSH" title="MedGen record for Impaired nasal mucociliary clearance">Impaired nasal mucociliary clearance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1622043" ref="tree=MeSH" title="MedGen record for Abnormal nasal mucus secretion">Abnormal nasal mucus secretion</a></span><ul><li><span class="TLline"><a href="/medgen/1864421" ref="tree=MeSH" title="MedGen record for Nasal secretion eosinophilia">Nasal secretion eosinophilia</a></span></li><li><span class="TLline"><a href="/medgen/1863422" ref="tree=MeSH" title="MedGen record for Nasal secretion neutrophilia">Nasal secretion neutrophilia</a></span></li><li><span class="TLline"><a href="/medgen/226777" ref="tree=MeSH" title="MedGen record for Rhinorrhea">Rhinorrhea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/332433" ref="tree=MeSH" title="MedGen record for Abnormal pattern of respiration">Abnormal pattern of respiration</a></span><ul><li><span class="TLline"><a href="/medgen/2009" ref="tree=MeSH" title="MedGen record for Apnea">Apnea</a></span></li><li><span class="TLline"><a href="/medgen/66670" ref="tree=MeSH" title="MedGen record for Bradypnea">Bradypnea</a></span></li><li><span class="TLline"><a href="/medgen/1052602" ref="tree=MeSH" title="MedGen record for Breath-holding spell">Breath-holding spell</a></span></li><li><span class="TLline"><a href="/medgen/3359" ref="tree=MeSH" title="MedGen record for Cheyne-Stokes respiration">Cheyne-Stokes respiration</a></span></li><li><span class="TLline"><a href="/medgen/3938" ref="tree=MeSH" title="MedGen record for Dyspnea">Dyspnea</a></span></li><li><span class="TLline"><a href="/medgen/1863427" ref="tree=MeSH" title="MedGen record for Habitual mouth breathing">Habitual mouth breathing</a></span></li><li><span class="TLline"><a href="/medgen/9377" ref="tree=MeSH" title="MedGen record for Hyperventilation">Hyperventilation</a></span></li><li><span class="TLline"><a href="/medgen/536410" ref="tree=MeSH" title="MedGen record for Hypopnea">Hypopnea</a></span></li><li><span class="TLline"><a href="/medgen/469022" ref="tree=MeSH" title="MedGen record for Hypoventilation">Hypoventilation</a></span></li><li><span class="TLline"><a href="/medgen/452504" ref="tree=MeSH" title="MedGen record for Irregular respiration">Irregular respiration</a></span></li><li><span class="TLline"><a href="/medgen/1625230" ref="tree=MeSH" title="MedGen record for Night gasping">Night gasping</a></span></li><li><span class="TLline"><a href="/medgen/534076" ref="tree=MeSH" title="MedGen record for Paradoxical respiration">Paradoxical respiration</a></span></li><li><span class="TLline"><a href="/medgen/66669" ref="tree=MeSH" title="MedGen record for Tachypnea">Tachypnea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868585" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium physiology">Abnormal respiratory motile cilium physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868584" ref="tree=MeSH" title="MedGen record for Abnormal ciliary motility">Abnormal ciliary motility</a></span></li><li><span class="TLline"><a href="/medgen/1757199" ref="tree=MeSH" title="MedGen record for Reduced respiratory ciliary beating frequency">Reduced respiratory ciliary beating frequency</a></span></li><li><span class="TLline"><a href="/medgen/765013" ref="tree=MeSH" title="MedGen record for Respiratory insufficiency due to defective ciliary clearance">Respiratory insufficiency due to defective ciliary clearance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868593" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system morphology">Abnormal respiratory system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1670932" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary thoracic imaging finding">Abnormal pulmonary thoracic imaging finding</a></span></li><li><span class="TLline"><a href="/medgen/868592" ref="tree=MeSH" title="MedGen record for Abnormal respiratory epithelium morphology">Abnormal respiratory epithelium morphology</a></span></li><li><span class="TLline"><a href="/medgen/510701" ref="tree=MeSH" title="MedGen record for Abnormal sputum">Abnormal sputum</a></span></li><li><span class="TLline"><a href="/medgen/867271" ref="tree=MeSH" title="MedGen record for Abnormal tracheobronchial morphology">Abnormal tracheobronchial morphology</a></span></li><li><span class="TLline"><a href="/medgen/892303" ref="tree=MeSH" title="MedGen record for Abnormality of the lung">Abnormality of the lung</a></span></li><li><span class="TLline"><a href="/medgen/871244" ref="tree=MeSH" title="MedGen record for Abnormality of the upper respiratory tract">Abnormality of the upper respiratory tract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/635153" ref="tree=MeSH" title="MedGen record for Abnormality on pulmonary function testing">Abnormality on pulmonary function testing</a></span><ul><li><span class="TLline"><a href="/medgen/1786454" ref="tree=MeSH" title="MedGen record for Abnormal alveolar volume">Abnormal alveolar volume</a></span></li><li><span class="TLline"><a href="/medgen/893139" ref="tree=MeSH" title="MedGen record for Abnormal DLCO">Abnormal DLCO</a></span></li><li><span class="TLline"><a href="/medgen/1782477" ref="tree=MeSH" title="MedGen record for Abnormal functional residual capacity">Abnormal functional residual capacity</a></span></li><li><span class="TLline"><a href="/medgen/1786388" ref="tree=MeSH" title="MedGen record for Abnormal KCO">Abnormal KCO</a></span></li><li><span class="TLline"><a href="/medgen/1784362" ref="tree=MeSH" title="MedGen record for Abnormal residual volume">Abnormal residual volume</a></span></li><li><span class="TLline"><a href="/medgen/1779272" ref="tree=MeSH" title="MedGen record for Abnormal RV/TLC ratio">Abnormal RV/TLC ratio</a></span></li><li><span class="TLline"><a href="/medgen/1686759" ref="tree=MeSH" title="MedGen record for Decreased forced expiratory flow 25-75%">Decreased forced expiratory flow 25-75%</a></span></li><li><span class="TLline"><a href="/medgen/1785833" ref="tree=MeSH" title="MedGen record for Decreased maximal oxygen uptake">Decreased maximal oxygen uptake</a></span></li><li><span class="TLline"><a href="/medgen/1694292" ref="tree=MeSH" title="MedGen record for Decreased peak expiratory flow">Decreased peak expiratory flow</a></span></li><li><span class="TLline"><a href="/medgen/1788455" ref="tree=MeSH" title="MedGen record for Elevated forced expiratory volume in one second">Elevated forced expiratory volume in one second</a></span></li><li><span class="TLline"><a href="/medgen/898646" ref="tree=MeSH" title="MedGen record for Reduced FEV1/FVC ratio">Reduced FEV1/FVC ratio</a></span></li><li><span class="TLline"><a href="/medgen/1687063" ref="tree=MeSH" title="MedGen record for Reduced forced expiratory volume in one second">Reduced forced expiratory volume in one second</a></span></li><li><span class="TLline"><a href="/medgen/337630" ref="tree=MeSH" title="MedGen record for Reduced forced vital capacity">Reduced forced vital capacity</a></span></li><li><span class="TLline"><a href="/medgen/1761415" ref="tree=MeSH" title="MedGen record for Reduced total lung capacity">Reduced total lung capacity</a></span></li><li><span class="TLline"><a href="/medgen/141657" ref="tree=MeSH" title="MedGen record for Reduced vital capacity">Reduced vital capacity</a></span></li><li><span class="TLline"><a href="/medgen/478856" ref="tree=MeSH" title="MedGen record for Restrictive ventilatory defect">Restrictive ventilatory defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11196" ref="tree=MeSH" title="MedGen record for Airway hyperresponsiveness">Airway hyperresponsiveness</a></span><ul><li><span class="TLline"><a href="/medgen/382012" ref="tree=MeSH" title="MedGen record for Allergic rhinitis">Allergic rhinitis</a></span></li><li><span class="TLline"><a href="/medgen/2109" ref="tree=MeSH" title="MedGen record for Asthma">Asthma</a></span></li><li><span class="TLline"><a href="/medgen/1446" ref="tree=MeSH" title="MedGen record for Hypersensitivity pneumonitis">Hypersensitivity pneumonitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1387" ref="tree=MeSH" title="MedGen record for Airway obstruction">Airway obstruction</a></span><ul><li><span class="TLline"><a href="/medgen/9818" ref="tree=MeSH" title="MedGen record for Chronic pulmonary obstruction">Chronic pulmonary obstruction</a></span></li><li><span class="TLline"><a href="/medgen/1787242" ref="tree=MeSH" title="MedGen record for Irreversible airflow obstruction">Irreversible airflow obstruction</a></span></li><li><span class="TLline"><a href="/medgen/10266" ref="tree=MeSH" title="MedGen record for Nasal obstruction present">Nasal obstruction present</a></span></li><li><span class="TLline"><a href="/medgen/65143" ref="tree=MeSH" title="MedGen record for Obstruction of bronchus">Obstruction of bronchus</a></span></li><li><span class="TLline"><a href="/medgen/83303" ref="tree=MeSH" title="MedGen record for Obstruction of trachea">Obstruction of trachea</a></span></li><li><span class="TLline"><a href="/medgen/1779583" ref="tree=MeSH" title="MedGen record for Reversible airflow obstruction">Reversible airflow obstruction</a></span></li><li><span class="TLline"><a href="/medgen/149266" ref="tree=MeSH" title="MedGen record for Upper airway obstruction">Upper airway obstruction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/751786" ref="tree=MeSH" title="MedGen record for Aspiration">Aspiration</a></span></li><li><span class="TLline"><a href="/medgen/814376" ref="tree=MeSH" title="MedGen record for Breathing dysregulation">Breathing dysregulation</a></span><ul><li><span class="TLline"><a href="/medgen/812616" ref="tree=MeSH" title="MedGen record for Decreased sensitivity to hypoxemia">Decreased sensitivity to hypoxemia</a></span></li><li><span class="TLline"><a href="/medgen/812546" ref="tree=MeSH" title="MedGen record for Neonatal breathing dysregulation">Neonatal breathing dysregulation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/196656" ref="tree=MeSH" title="MedGen record for Chronic lung disease">Chronic lung disease</a></span><ul><li><span class="TLline"><a href="/medgen/13946" ref="tree=MeSH" title="MedGen record for Atelectasis">Atelectasis</a></span></li><li><span class="TLline"><a href="/medgen/14235" ref="tree=MeSH" title="MedGen record for Bronchiolitis">Bronchiolitis</a></span></li><li><span class="TLline"><a href="/medgen/82679" ref="tree=MeSH" title="MedGen record for Bronchomalacia">Bronchomalacia</a></span></li><li><span class="TLline"><a href="/medgen/2738" ref="tree=MeSH" title="MedGen record for Bronchopulmonary dysplasia of newborn">Bronchopulmonary dysplasia of newborn</a></span></li><li><span class="TLline"><a href="/medgen/2769" ref="tree=MeSH" title="MedGen record for Byssinosis">Byssinosis</a></span></li><li><span class="TLline"><a href="/medgen/234269" ref="tree=MeSH" title="MedGen record for Follicular Bronchitis/Bronchiolitis">Follicular Bronchitis/Bronchiolitis</a></span></li><li><span class="TLline"><a href="/medgen/837309" ref="tree=MeSH" title="MedGen record for Neuroendocrine cell hyperplasia of infancy">Neuroendocrine cell hyperplasia of infancy</a></span></li><li><span class="TLline"><a href="/medgen/19360" ref="tree=MeSH" title="MedGen record for Pneumoconiosis">Pneumoconiosis</a></span></li><li><span class="TLline"><a href="/medgen/11028" ref="tree=MeSH" title="MedGen record for Pulmonary fibrosis">Pulmonary fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/19873" ref="tree=MeSH" title="MedGen record for Pulmonary sarcoidosis">Pulmonary sarcoidosis</a></span></li><li><span class="TLline"><a href="/medgen/11197" ref="tree=MeSH" title="MedGen record for Respiratory insufficiency">Respiratory insufficiency</a></span></li><li><span class="TLline"><a href="/medgen/43209" ref="tree=MeSH" title="MedGen record for Restrictive lung disease">Restrictive lung disease</a></span></li><li><span class="TLline"><a href="/medgen/1649262" ref="tree=MeSH" title="MedGen record for Sickle Cell Chronic Lung Disease">Sickle Cell Chronic Lung Disease</a></span></li><li><span class="TLline"><a href="/medgen/90935" ref="tree=MeSH" title="MedGen record for Somatoform autonomic dysfunction - respiratory tract">Somatoform autonomic dysfunction - respiratory tract</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41325" ref="tree=MeSH" title="MedGen record for Cough">Cough</a></span><ul><li><span class="TLline"><a href="/medgen/536301" ref="tree=MeSH" title="MedGen record for Barking cough">Barking cough</a></span></li><li><span class="TLline"><a href="/medgen/507601" ref="tree=MeSH" title="MedGen record for Chronic cough">Chronic cough</a></span></li><li><span class="TLline"><a href="/medgen/163087" ref="tree=MeSH" title="MedGen record for Nonproductive cough">Nonproductive cough</a></span></li><li><span class="TLline"><a href="/medgen/66781" ref="tree=MeSH" title="MedGen record for Productive cough">Productive cough</a></span></li><li><span class="TLline"><a href="/medgen/814056" ref="tree=MeSH" title="MedGen record for Recurrent coughing spasms">Recurrent coughing spasms</a></span></li><li><span class="TLline"><a href="/medgen/508297" ref="tree=MeSH" title="MedGen record for Whooping cough">Whooping cough</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/767344" ref="tree=MeSH" title="MedGen record for Decreased nasal nitric oxide">Decreased nasal nitric oxide</a></span></li><li><span class="TLline"><a href="/medgen/1864121" ref="tree=MeSH" title="MedGen record for Hyperpolarized transepithelial nasal potential difference">Hyperpolarized transepithelial nasal potential difference</a></span></li><li><span class="TLline"><a href="/medgen/341487" ref="tree=MeSH" title="MedGen record for Progressive pulmonary function impairment">Progressive pulmonary function impairment</a></span></li><li><span class="TLline"><a href="/medgen/927613" ref="tree=MeSH" title="MedGen record for Tracheal tug on inspiration">Tracheal tug on inspiration</a></span></li><li><span class="TLline"><a href="/medgen/870886" ref="tree=MeSH" title="MedGen record for Weakness of muscles of respiration">Weakness of muscles of respiration</a></span><ul><li><span class="TLline"><a href="/medgen/868485" ref="tree=MeSH" title="MedGen record for Reduced maximal expiratory pressure">Reduced maximal expiratory pressure</a></span></li><li><span class="TLline"><a href="/medgen/868486" ref="tree=MeSH" title="MedGen record for Reduced maximal inspiratory pressure">Reduced maximal inspiratory pressure</a></span></li><li><span class="TLline"><a href="/medgen/812797" ref="tree=MeSH" title="MedGen record for Respiratory insufficiency due to muscle weakness">Respiratory insufficiency due to muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/19748" ref="tree=MeSH" title="MedGen record for Respiratory paralysis">Respiratory paralysis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_9403"><div><strong>Idiopathic pulmonary hemosiderosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9403">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83314"><div><strong>Pulmonary hypertension due to chronic exposure to high altitude</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83314</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0340552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83314">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83401"><div><strong>Blue rubber bleb nevus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83401</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0346072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83401">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_226997"><div><strong>Congenital fascial dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226997</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1302740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/226997">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371329"><div><strong>Microcephaly-cardiac defect-lung malsegmentation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371329</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/371329">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336425"><div><strong>Thymic-renal-anal-lung dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336425</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336425">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_340382"><div><strong>Holoprosencephaly-postaxial polydactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340382</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340382">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_349095"><div><strong>Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349095</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1859104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/349095">Condition Record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue rubber bleb nevus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital fascial dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly-postaxial polydactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Idiopathic pulmonary hemosiderosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-cardiac defect-lung malsegmentation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypertension due to chronic exposure to high altitude</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thymic-renal-anal-lung dysplasia</a></div></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
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Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
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<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34461049">Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy C,
|
||
Gupta N,
|
||
Johnson SR,
|
||
Yu JJ,
|
||
McCormack FX</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2021 Nov;9(11):1313-1327.
|
||
Epub 2021 Aug 27
|
||
doi: 10.1016/S2213-2600(21)00228-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34461049" target="_blank">34461049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33007269">Management of clinical chorioamnionitis: an evidence-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conde-Agudelo A,
|
||
Romero R,
|
||
Jung EJ,
|
||
Garcia Sánchez ÁJ</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):848-869.
|
||
Epub 2020 Sep 29
|
||
doi: 10.1016/j.ajog.2020.09.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33007269" target="_blank">33007269</a><a href="/pmc/articles/PMC8315154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20respiratory%20system)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1462)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37919294">Congenital lung malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pederiva F,
|
||
Rothenberg SS,
|
||
Hall N,
|
||
Ijsselstijn H,
|
||
Wong KKY,
|
||
von der Thüsen J,
|
||
Ciet P,
|
||
Achiron R,
|
||
Pio d'Adamo A,
|
||
Schnater JM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Nov 2;9(1):60.
|
||
doi: 10.1038/s41572-023-00470-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37919294" target="_blank">37919294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30580478">The etiology of VACTERL association: Current knowledge and hypotheses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Solomon BD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2018 Dec;178(4):440-446.
|
||
doi: 10.1002/ajmg.c.31664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30580478" target="_blank">30580478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):597-607.
|
||
Epub 2018 Sep 11
|
||
doi: 10.1016/j.clp.2018.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28132084">Pediatric airway surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maeda K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Apr;33(4):435-443.
|
||
Epub 2017 Jan 28
|
||
doi: 10.1007/s00383-016-4050-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28132084" target="_blank">28132084</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5411997">The prognosis of encephaloceles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mealey J Jr,
|
||
Dzenitis AJ,
|
||
Hockey AA</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
1970 Feb;32(2):209-18.
|
||
doi: 10.3171/jns.1970.32.2.0209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5411997" target="_blank">5411997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15738)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37334833">Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dehner LP,
|
||
Schultz KAP,
|
||
Hill DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2023 May-Jun;26(3):241-249.
|
||
Epub 2023 Feb 21
|
||
doi: 10.1177/10935266221146823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37334833" target="_blank">37334833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36328607">Management of Congenital Lung Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hegde BN,
|
||
Tsao K,
|
||
Hirose S</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2022 Dec;49(4):907-926.
|
||
doi: 10.1016/j.clp.2022.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36328607" target="_blank">36328607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):597-607.
|
||
Epub 2018 Sep 11
|
||
doi: 10.1016/j.clp.2018.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27301597">Laryngotracheoesophageal clefts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strychowsky JE,
|
||
Rahbar R</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2016 Jun;25(3):128-31.
|
||
Epub 2016 Feb 21
|
||
doi: 10.1053/j.sempedsurg.2016.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27301597" target="_blank">27301597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21180950">Johanson-Blizzard syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramos S,
|
||
Ramos HF,
|
||
Ramos RF,
|
||
Peixoto CA,
|
||
Ramos BF</span><br />
|
||
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
|
||
2010 Nov-Dec;76(6):794.
|
||
doi: 10.1590/s1808-86942010000600020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21180950" target="_blank">21180950</a><a href="/pmc/articles/PMC9444546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15461)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35650272">Congenital diaphragmatic hernia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zani A,
|
||
Chung WK,
|
||
Deprest J,
|
||
Harting MT,
|
||
Jancelewicz T,
|
||
Kunisaki SM,
|
||
Patel N,
|
||
Antounians L,
|
||
Puligandla PS,
|
||
Keijzer R</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Jun 1;8(1):37.
|
||
doi: 10.1038/s41572-022-00362-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35650272" target="_blank">35650272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34636632">Right Upper Lobe Pulmonary Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo J,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
2022 Jan;302(1):26.
|
||
Epub 2021 Oct 12
|
||
doi: 10.1148/radiol.2021211523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34636632" target="_blank">34636632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32930508">Persistent pulmonary hypertension of the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mandell E,
|
||
Kinsella JP,
|
||
Abman SH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2021 Mar;56(3):661-669.
|
||
doi: 10.1002/ppul.25073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32930508" target="_blank">32930508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24652656">Primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo LJ,
|
||
Zariwala MA,
|
||
Noone PG</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2014 Sep;107(9):691-9.
|
||
Epub 2014 Mar 19
|
||
doi: 10.1093/qjmed/hcu063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24652656" target="_blank">24652656</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22528920">Unilateral hyperlucent lung in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wasilewska E,
|
||
Lee EY,
|
||
Eisenberg RL</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2012 May;198(5):W400-14.
|
||
doi: 10.2214/AJR.11.7028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22528920" target="_blank">22528920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9203)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36027900">Congenital Hepatopulmonary Fusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rocha GMD</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2022 Dec;32(6):477-496.
|
||
Epub 2022 Aug 26
|
||
doi: 10.1055/s-0042-1749213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36027900" target="_blank">36027900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30396407">Airway Anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landry AM,
|
||
Rutter MJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Dec;45(4):597-607.
|
||
Epub 2018 Sep 11
|
||
doi: 10.1016/j.clp.2018.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30396407" target="_blank">30396407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22151899">Laryngo-tracheo-oesophageal clefts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leboulanger N,
|
||
Garabédian EN</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Dec 7;6:81.
|
||
doi: 10.1186/1750-1172-6-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22151899" target="_blank">22151899</a><a href="/pmc/articles/PMC3261097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11463968">Congenital cricopharyngeal achalasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathur NB,
|
||
Banerjee S,
|
||
Maria A,
|
||
Bhatnagar V</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2001 Jul;38(7):783-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11463968" target="_blank">11463968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5411997">The prognosis of encephaloceles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mealey J Jr,
|
||
Dzenitis AJ,
|
||
Hockey AA</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
1970 Feb;32(2):209-18.
|
||
doi: 10.3171/jns.1970.32.2.0209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5411997" target="_blank">5411997</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9024)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37334833">Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dehner LP,
|
||
Schultz KAP,
|
||
Hill DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2023 May-Jun;26(3):241-249.
|
||
Epub 2023 Feb 21
|
||
doi: 10.1177/10935266221146823.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37334833" target="_blank">37334833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29747656">Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zwink N,
|
||
Jenetzky E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 May 10;13(1):75.
|
||
doi: 10.1186/s13023-018-0789-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29747656" target="_blank">29747656</a><a href="/pmc/articles/PMC5946541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28325581">Prenatal prediction of pulmonary hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Triebwasser JE,
|
||
Treadwell MC</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2017 Aug;22(4):245-249.
|
||
Epub 2017 Mar 18
|
||
doi: 10.1016/j.siny.2017.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28325581" target="_blank">28325581</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22539491">Prediction of pulmonary hypoplasia in mid-trimester preterm prelabor rupture of membranes: research or clinical practice?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavoretto P</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2012 May;39(5):489-94.
|
||
doi: 10.1002/uog.11172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22539491" target="_blank">22539491</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14211086">THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DEMYER W,
|
||
ZEMAN W,
|
||
PALMER CG</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1964 Aug;34:256-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14211086" target="_blank">14211086</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10163)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37076175">Post-tuberculosis lung impairment: systematic review and meta-analysis of spirometry data from 14 621 people.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ivanova O,
|
||
Hoffmann VS,
|
||
Lange C,
|
||
Hoelscher M,
|
||
Rachow A</span><br />
|
||
<span class="medgenPMjournal">Eur Respir Rev</span>
|
||
2023 Jun 30;32(168)
|
||
Epub 2023 Apr 19
|
||
doi: 10.1183/16000617.0221-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37076175" target="_blank">37076175</a><a href="/pmc/articles/PMC10113954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36107254">Prevalence and clinical presentation of long COVID in children: a systematic review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellegrino R,
|
||
Chiappini E,
|
||
Licari A,
|
||
Galli L,
|
||
Marseglia GL</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2022 Dec;181(12):3995-4009.
|
||
Epub 2022 Sep 15
|
||
doi: 10.1007/s00431-022-04600-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107254" target="_blank">36107254</a><a href="/pmc/articles/PMC9476461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34914641">Airway Ultrasound as Predictor of Difficult Direct Laryngoscopy: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carsetti A,
|
||
Sorbello M,
|
||
Adrario E,
|
||
Donati A,
|
||
Falcetta S</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2022 Apr 1;134(4):740-750.
|
||
doi: 10.1213/ANE.0000000000005839.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34914641" target="_blank">34914641</a><a href="/pmc/articles/PMC8903216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29153763">Prevalence of adenoid hypertrophy: A systematic review and meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira L,
|
||
Monyror J,
|
||
Almeida FT,
|
||
Almeida FR,
|
||
Guerra E,
|
||
Flores-Mir C,
|
||
Pachêco-Pereira C</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2018 Apr;38:101-112.
|
||
Epub 2017 Jun 14
|
||
doi: 10.1016/j.smrv.2017.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153763" target="_blank">29153763</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28763554">Does This Child Have Pneumonia?: The Rational Clinical Examination Systematic Review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah SN,
|
||
Bachur RG,
|
||
Simel DL,
|
||
Neuman MI</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2017 Aug 1;318(5):462-471.
|
||
doi: 10.1001/jama.2017.9039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28763554" target="_blank">28763554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20respiratory%20system%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (340)</a></div></div>
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