From HPO
Renal dysplasia- MedGen UID:
- 760690
- •Concept ID:
- C3536714
- •
- Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Lower limb undergrowth- MedGen UID:
- 138016
- •Concept ID:
- C0345371
- •
- Congenital Abnormality
Leg shortening because of underdevelopment of one or more bones of the lower extremity.
Forearm undergrowth- MedGen UID:
- 383651
- •Concept ID:
- C1855299
- •
- Anatomical Abnormality
Forearm shortening because of underdevelopment of one or more bones of the forearm.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Convex nasal ridge- MedGen UID:
- 66809
- •Concept ID:
- C0240538
- •
- Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Broad forehead- MedGen UID:
- 338610
- •Concept ID:
- C1849089
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Oral cleft- MedGen UID:
- 893092
- •Concept ID:
- C4021813
- •
- Congenital Abnormality
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Chorioretinal coloboma- MedGen UID:
- 66820
- •Concept ID:
- C0240896
- •
- Congenital Abnormality
Absence of a region of the retina, retinal pigment epithelium, and choroid.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system