From HPO
Short tubular bones of the hand- MedGen UID:
- 871307
- •Concept ID:
- C4025795
- •
- Finding
Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
Abnormal foot morphology- MedGen UID:
- 1762829
- •Concept ID:
- C5399834
- •
- Anatomical Abnormality
An abnormality of the skeleton of foot.
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly- MedGen UID:
- 113165
- •Concept ID:
- C0221356
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Barrel-shaped chest- MedGen UID:
- 120497
- •Concept ID:
- C0264172
- •
- Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Microretrognathia- MedGen UID:
- 326907
- •Concept ID:
- C1839546
- •
- Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Short long bone- MedGen UID:
- 344385
- •Concept ID:
- C1854912
- •
- Finding
One or more abnormally short long bone.
Absent vertebral body mineralization- MedGen UID:
- 349746
- •Concept ID:
- C1860191
- •
- Finding
A lack of bone mineralization of the vertebral bodies.
Hypoplastic iliac wing- MedGen UID:
- 351279
- •Concept ID:
- C1865027
- •
- Anatomical Abnormality
Underdevelopment of the ilium ala.
Horizontal ribs- MedGen UID:
- 812840
- •Concept ID:
- C3806510
- •
- Finding
A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.
Broad long bones- MedGen UID:
- 867270
- •Concept ID:
- C4021630
- •
- Finding
Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Crescent-shaped iliac bone- MedGen UID:
- 1864239
- •Concept ID:
- C5937401
- •
- Anatomical Abnormality
Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.
Delayed distal femoral epiphyseal ossification- MedGen UID:
- 1863849
- •Concept ID:
- C5937579
- •
- Anatomical Abnormality
Developmental delay of ossification of the distal epiphysis of the femur.
Delayed tibial epiphyseal ossification- MedGen UID:
- 1863868
- •Concept ID:
- C5937580
- •
- Anatomical Abnormality
Developmental delay of ossification of an epiphysis of the tibia.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Cystic hygroma- MedGen UID:
- 60195
- •Concept ID:
- C0206620
- •
- Neoplastic Process
A cystic lymphatic lesion of the neck.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis- MedGen UID:
- 6947
- •Concept ID:
- C0020305
- •
- Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Abnormally large globe- MedGen UID:
- 344595
- •Concept ID:
- C1855852
- •
- Finding
Diffusely large eye (with megalocornea) without glaucoma.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Growth abnormality