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<!--
UID=52948
ConceptID=C0042063
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the genitourinary system</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52948</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)&#10;Click for more information.">C0042063</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormalities, Genitourinary; Abnormalities, Urogenital; Abnormality, Genitourinary; Abnormality, Urogenital; Genitourinary Abnormalities; Genitourinary Abnormality; Urogenital Abnormalities; Urogenital Abnormality</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Genitourinary congenital anomalies (287085006); Congenital urogenital anomaly (287085006)</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:0000119">HP:0000119</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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>
<div class="portlet_content ln">The presence of any abnormality of the genitourinary system. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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="TLline">Abnormality of the genitourinary 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="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="matched_ds">Abnormality of the genitourinary system</span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871335" ref="tree=MeSH" title="MedGen record for Abnormal external genitalia morphology">Abnormal external genitalia morphology</a></span></li><li><span class="TLline"><a href="/medgen/868310" ref="tree=MeSH" title="MedGen record for Abnormal germ cell morphology">Abnormal germ cell morphology</a></span></li><li><span class="TLline"><a href="/medgen/871334" ref="tree=MeSH" title="MedGen record for Abnormal internal genitalia">Abnormal internal genitalia</a></span></li><li><span class="TLline"><a href="/medgen/868597" ref="tree=MeSH" title="MedGen record for Abnormal sex determination">Abnormal sex determination</a></span></li><li><span class="TLline"><a href="/medgen/869393" ref="tree=MeSH" title="MedGen record for Abnormality of the female genitalia">Abnormality of the female genitalia</a></span></li><li><span class="TLline"><a href="/medgen/869392" ref="tree=MeSH" title="MedGen record for Abnormality of the male genitalia">Abnormality of the male genitalia</a></span></li><li><span class="TLline"><a href="/medgen/341276" ref="tree=MeSH" title="MedGen record for Anteriorly displaced genitalia">Anteriorly displaced genitalia</a></span></li><li><span class="TLline"><a href="/medgen/871261" ref="tree=MeSH" title="MedGen record for Genital tract atresia">Genital tract atresia</a></span></li><li><span class="TLline"><a href="/medgen/57716" ref="tree=MeSH" title="MedGen record for Genital ulcers">Genital ulcers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892582" ref="tree=MeSH" title="MedGen record for Abnormality of reproductive system physiology">Abnormality of reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/892419" ref="tree=MeSH" title="MedGen record for Abnormal female reproductive system physiology">Abnormal female reproductive system physiology</a></span></li><li><span class="TLline"><a href="/medgen/1779633" ref="tree=MeSH" title="MedGen record for Abnormal gametogenesis">Abnormal gametogenesis</a></span></li><li><span class="TLline"><a href="/medgen/1644032" ref="tree=MeSH" title="MedGen record for Abnormal libido">Abnormal libido</a></span></li><li><span class="TLline"><a href="/medgen/866472" ref="tree=MeSH" title="MedGen record for Abnormal male reproductive system physiology">Abnormal male reproductive system physiology</a></span></li><li><span class="TLline"><a href="/medgen/65860" ref="tree=MeSH" title="MedGen record for Anorgasmia">Anorgasmia</a></span></li><li><span class="TLline"><a href="/medgen/452706" ref="tree=MeSH" title="MedGen record for Decreased fertility">Decreased fertility</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869218" ref="tree=MeSH" title="MedGen record for Abnormality of the lower urinary tract">Abnormality of the lower urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/488778" ref="tree=MeSH" title="MedGen record for Abnormality of the bladder">Abnormality of the bladder</a></span></li><li><span class="TLline"><a href="/medgen/871336" ref="tree=MeSH" title="MedGen record for Abnormality of the urethra">Abnormality of the urethra</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span></li><li><span class="TLline"><a href="/medgen/374455" ref="tree=MeSH" title="MedGen record for Abnormality of the ureter">Abnormality of the ureter</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/508816" ref="tree=MeSH" title="MedGen record for Abnormal renal physiology">Abnormal renal physiology</a></span></li><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span></li><li><span class="TLline"><a href="/medgen/120466" ref="tree=MeSH" title="MedGen record for Recurrent urinary tract infections">Recurrent urinary tract infections</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/853235" ref="tree=MeSH" title="MedGen record for Urinary tract atresia">Urinary tract atresia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1638227" ref="tree=MeSH" title="MedGen record for Absent penis">Absent penis</a></span></li><li><span 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valve</a></span><ul><li><span class="TLline"><a href="/medgen/883792" ref="tree=MeSH" title="MedGen record for Posterior Urethral Valves Type 1">Posterior Urethral Valves Type 1</a></span></li><li><span class="TLline"><a href="/medgen/883089" ref="tree=MeSH" title="MedGen record for Posterior Urethral Valves Type 3">Posterior Urethral Valves Type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/884131" ref="tree=MeSH" title="MedGen record for Congenital Renal Hypoplasia">Congenital Renal Hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/75608" ref="tree=MeSH" title="MedGen record for Double kidney">Double kidney</a></span></li><li><span class="TLline"><a href="/medgen/65140" ref="tree=MeSH" title="MedGen record for Horseshoe kidney">Horseshoe kidney</a></span></li><li><span class="TLline"><a href="/medgen/163083" ref="tree=MeSH" title="MedGen record for Hypospadias">Hypospadias</a></span><ul><li><span class="TLline"><a href="/medgen/305577" ref="tree=MeSH" title="MedGen record for Penile hypospadias">Penile hypospadias</a></span></li><li><span class="TLline"><a href="/medgen/105291" ref="tree=MeSH" title="MedGen record for Penoscrotal hypospadias">Penoscrotal hypospadias</a></span></li><li><span class="TLline"><a href="/medgen/105292" ref="tree=MeSH" title="MedGen record for Perineal hypospadias">Perineal hypospadias</a></span></li><li><span class="TLline"><a href="/medgen/786371" ref="tree=MeSH" title="MedGen record for Scrotal hypospadias">Scrotal hypospadias</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1790202" ref="tree=MeSH" title="MedGen record for Malposition of Ureter">Malposition of Ureter</a></span></li><li><span class="TLline"><a href="/medgen/75610" ref="tree=MeSH" title="MedGen record for Patent urachus">Patent urachus</a></span></li><li><span class="TLline"><a href="/medgen/67446" ref="tree=MeSH" title="MedGen record for Pelvic kidney">Pelvic kidney</a></span></li><li><span 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ureter</a></span></li><li><span class="TLline"><a href="/medgen/1637097" ref="tree=MeSH" title="MedGen record for Ureter duplex">Ureter duplex</a></span></li><li><span class="TLline"><a href="/medgen/866732" ref="tree=MeSH" title="MedGen record for Ureter fissus">Ureter fissus</a></span></li><li><span class="TLline"><a href="/medgen/870200" ref="tree=MeSH" title="MedGen record for Ureteral triplication">Ureteral triplication</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/769757" ref="tree=MeSH" title="MedGen record for Congenital Reproductive System Abnormality">Congenital Reproductive System Abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/415936" ref="tree=MeSH" title="MedGen record for Disorder of sexual differentiation">Disorder of sexual differentiation</a></span><ul><li><span class="TLline"><a href="/medgen/424728" ref="tree=MeSH" title="MedGen record for 46,XX disorder of sex development">46,XX disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/424734" ref="tree=MeSH" title="MedGen record for 46,XX testicular disorder of sex development">46,XX testicular disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/927565" ref="tree=MeSH" title="MedGen record for 46,XX/46,XY Ovotesticular Differences of Sex Development">46,XX/46,XY Ovotesticular Differences of Sex Development</a></span></li><li><span class="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/394582" ref="tree=MeSH" title="MedGen record for 46,XY ovotesticular disorder of sex development">46,XY ovotesticular disorder of sex development</a></span></li><li><span class="TLline"><a href="/medgen/1383408" ref="tree=MeSH" title="MedGen record for Idiopathic 46,XY Differences of Sex Development">Idiopathic 46,XY Differences of Sex Development</a></span></li><li><span class="TLline"><a href="/medgen/926070" ref="tree=MeSH" title="MedGen record for Ovotesticular Differences of Sex Development">Ovotesticular Differences of Sex Development</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233774" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Gonadal Disorder">Non-Neoplastic Gonadal Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/181797" ref="tree=MeSH" title="MedGen record for Gonadal agenesis">Gonadal agenesis</a></span></li><li><span class="TLline"><a href="/medgen/9075" ref="tree=MeSH" title="MedGen record for Gonadal dysgenesis">Gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/5711" ref="tree=MeSH" title="MedGen record for Hypogonadism">Hypogonadism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/82692" ref="tree=MeSH" title="MedGen record for Cryptophthalmos syndrome">Cryptophthalmos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8192" ref="tree=MeSH" title="MedGen record for Cryptorchidism">Cryptorchidism</a></span><ul><li><span class="TLline"><a href="/medgen/96568" ref="tree=MeSH" title="MedGen record for Bilateral cryptorchidism">Bilateral cryptorchidism</a></span></li><li><span class="TLline"><a href="/medgen/98467" ref="tree=MeSH" title="MedGen record for Unilateral cryptorchidism">Unilateral cryptorchidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41839" ref="tree=MeSH" title="MedGen record for Epispadias">Epispadias</a></span><ul><li><span class="TLline"><a href="/medgen/889299" ref="tree=MeSH" title="MedGen record for Continent Epispadias">Continent Epispadias</a></span></li><li><span class="TLline"><a href="/medgen/647750" ref="tree=MeSH" title="MedGen record for Epispadias, male">Epispadias, male</a></span></li><li><span class="TLline"><a href="/medgen/881685" ref="tree=MeSH" title="MedGen record for Incontinent Epispadias">Incontinent Epispadias</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/384527" ref="tree=MeSH" title="MedGen record for Fetal pyelectasis">Fetal pyelectasis</a></span><ul><li><span class="TLline"><a href="/medgen/869105" ref="tree=MeSH" title="MedGen record for Bilateral fetal pyelectasis">Bilateral fetal pyelectasis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10305" ref="tree=MeSH" title="MedGen record for Hereditary nephritis">Hereditary nephritis</a></span></li><li><span class="TLline"><a href="/medgen/91040" ref="tree=MeSH" title="MedGen record for Hypoplasia of the vagina">Hypoplasia of the vagina</a></span></li><li><span class="TLline"><a href="/medgen/811388" ref="tree=MeSH" title="MedGen record for Multicystic kidney dysplasia">Multicystic kidney dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/333563" ref="tree=MeSH" title="MedGen record for Bilateral multicystic dysplastic kidney">Bilateral multicystic dysplastic kidney</a></span></li><li><span class="TLline"><a href="/medgen/292613" ref="tree=MeSH" title="MedGen record for Unilateral multicystic dysplastic kidney">Unilateral multicystic dysplastic kidney</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/357036" ref="tree=MeSH" title="MedGen record for Penoscrotal transposition">Penoscrotal transposition</a></span></li><li><span class="TLline"><a href="/medgen/342367" ref="tree=MeSH" title="MedGen record for Persistent Mullerian duct syndrome">Persistent Mullerian duct syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/857533" ref="tree=MeSH" title="MedGen record for Persistent mullerian duct syndrome, type I">Persistent mullerian duct syndrome, type I</a></span></li><li><span class="TLline"><a href="/medgen/857534" ref="tree=MeSH" title="MedGen record for Persistent mullerian duct syndrome, type II">Persistent mullerian duct syndrome, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/536828" ref="tree=MeSH" title="MedGen record for Retrocaval ureter">Retrocaval ureter</a></span></li><li><span class="TLline"><a href="/medgen/20725" ref="tree=MeSH" title="MedGen record for Sex Development Disorder">Sex Development Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/411324" ref="tree=MeSH" title="MedGen record for 46,XX sex reversal 1">46,XX sex reversal 1</a></span></li><li><span class="TLline"><a href="/medgen/86215" ref="tree=MeSH" title="MedGen record for Adrenogenital syndrome">Adrenogenital syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/266223" ref="tree=MeSH" title="MedGen record for Cortisone reductase deficiency">Cortisone reductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/333960" ref="tree=MeSH" title="MedGen record for Glucocorticoid resistance">Glucocorticoid resistance</a></span></li><li><span class="TLline"><a href="/medgen/64509" ref="tree=MeSH" title="MedGen record for Hyperandrogenization syndrome">Hyperandrogenization syndrome</a></span></li><li><span class="TLline"><a href="/medgen/924576" ref="tree=MeSH" title="MedGen record for MIRAGE syndrome">MIRAGE syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/423530" ref="tree=MeSH" title="MedGen record for Sex chromosome disorder of sex development">Sex chromosome disorder of sex development</a></span><ul><li><span class="TLline"><a href="/medgen/963057" ref="tree=MeSH" title="MedGen record for 45,X/46,XY mixed gonadal dysgenesis">45,X/46,XY mixed gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/452344" ref="tree=MeSH" title="MedGen record for 48,XXXY syndrome">48,XXXY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75573" ref="tree=MeSH" title="MedGen record for 49,XXXXY syndrome">49,XXXXY syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42099" ref="tree=MeSH" title="MedGen record for Freemartinism">Freemartinism</a></span></li><li><span class="TLline"><a href="/medgen/44033" ref="tree=MeSH" title="MedGen record for Klinefelter syndrome">Klinefelter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6654" ref="tree=MeSH" title="MedGen record for Mixed gonadal dysgenesis">Mixed gonadal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/609542" ref="tree=MeSH" title="MedGen record for Tetragametic chimerism">Tetragametic chimerism</a></span></li><li><span class="TLline"><a href="/medgen/21734" ref="tree=MeSH" title="MedGen record for Turner syndrome">Turner syndrome</a></span></li><li><span class="TLline"><a href="/medgen/422434" ref="tree=MeSH" title="MedGen record for XXYY syndrome">XXYY syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/52941" ref="tree=MeSH" title="MedGen record for Urinary fistula">Urinary fistula</a></span><ul><li><span class="TLline"><a href="/medgen/2662" ref="tree=MeSH" title="MedGen record for Bladder fistula">Bladder fistula</a></span><ul><li><span class="TLline"><a href="/medgen/22640" ref="tree=MeSH" title="MedGen record for Vesicovaginal fistula">Vesicovaginal fistula</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/184922" ref="tree=MeSH" title="MedGen record for Renal Pelvis Fistula">Renal Pelvis Fistula</a></span></li><li><span class="TLline"><a href="/medgen/21780" ref="tree=MeSH" title="MedGen record for Urethral fistula">Urethral fistula</a></span><ul><li><span class="TLline"><a href="/medgen/124348" ref="tree=MeSH" title="MedGen record for Urethrovaginal fistula">Urethrovaginal fistula</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/163124" ref="tree=MeSH" title="MedGen record for Urogenital fistula">Urogenital fistula</a></span><ul><li><span class="TLline"><a href="/medgen/12023" ref="tree=MeSH" title="MedGen record for Female urinary-genital tract fistula">Female urinary-genital tract fistula</a></span></li><li><span class="TLline"><a href="/medgen/107555" ref="tree=MeSH" title="MedGen record for Perineal fistula">Perineal fistula</a></span></li><li><span class="TLline"><a href="/medgen/21812" ref="tree=MeSH" title="MedGen record for Vaginal fistula">Vaginal fistula</a></span><ul><li><span class="TLline"><a href="/medgen/11152" ref="tree=MeSH" title="MedGen record for Rectovaginal fistula">Rectovaginal fistula</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_10629"><div><strong>Induratio penis plastica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10629</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)&#10;Click for more information.">C0030848</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10629">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_38966"><div><strong>Ovarian hyperstimulation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38966</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)&#10;Click for more information.">C0085083</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ovarian hyperstimulation syndrome (OHSS) most often occurs as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization; the incidence of severe forms ranges from 0.5 to 5% (Delvigne and Rozenberg, 2002). The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of the syndrome, whether spontaneous or iatrogenic, include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis (Scully et al., 1998).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/38966">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_113153"><div><strong>Intestinal malrotation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113153</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)&#10;Click for more information.">C0221210</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113153">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_167070"><div><strong>Recombinant 8 syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167070</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)&#10;Click for more information.">C0795822</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167070">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_372090"><div><strong>Labia minora, incomplete adhesion of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372090</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)&#10;Click for more information.">C1835613</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/372090">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375438"><div><strong>Inherited genitourinary tract anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375438</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)&#10;Click for more information.">C1844502</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375438">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_338087"><div><strong>Nathalie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338087</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)&#10;Click for more information.">C1850626</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338087">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_377535"><div><strong>Edema, familial idiopathic, prepubertal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377535</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)&#10;Click for more information.">C1851847</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/377535">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_383699"><div><strong>Leukemia, acute myelocytic, with polyposis coli and colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383699</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)&#10;Click for more information.">C1855505</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383699">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341728"><div><strong>Von Voss-Cherstvoy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341728</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)&#10;Click for more information.">C1857226</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341728">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_401073"><div><strong>Splenogonadal fusion-limb defects-micrognathia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401073</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)&#10;Click for more information.">C1866745</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401073">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</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)&#10;Click for more information.">C1956097</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_777088"><div><strong>Galactorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777088</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)&#10;Click for more information.">C3665358</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Excessive secretion of breast milk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/777088">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Edema, familial idiopathic, prepubertal</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_777088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galactorrhea</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Induratio penis plastica</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inherited genitourinary tract anomalies</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intestinal malrotation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Labia minora, incomplete adhesion of</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukemia, acute myelocytic, with polyposis coli and colon cancer</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nathalie syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recombinant 8 syndrome</a></div>
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<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/35040896">Diagnosis and Treatment of Polycystic Ovary Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huddleston HG,
Dokras A</span><br />
<span class="medgenPMjournal">JAMA</span>
2022 Jan 18;327(3):274-275.
doi: 10.1001/jama.2021.23769.
<span class="bold">PMID: </span><a href="/pubmed/35040896" target="_blank">35040896</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
<span class="medgenPMjournal">Am J Kidney Dis</span>
2021 Feb;77(2):272-279.
Epub 2020 Jul 22
doi: 10.1053/j.ajkd.2020.03.026.
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16624884">Consensus statement on management of intersex disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes IA,
Houk C,
Ahmed SF,
Lee PA;
LWPES Consensus Group;
ESPE Consensus Group</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2006 Jul;91(7):554-63.
Epub 2006 Apr 19
doi: 10.1136/adc.2006.098319.
<span class="bold">PMID: </span><a href="/pubmed/16624884" target="_blank">16624884</a><a href="/pmc/articles/PMC2082839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20genitourinary%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 (2460)</a></div></div>
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