SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1279889005
http://purl.bioontology.org/ontology/SNOMEDCT/1279889005
Preferred Name

Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome

Definitions
A rare genetic disease with a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum and prominent ears.
Synonyms
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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