SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/716245003
http://purl.bioontology.org/ontology/SNOMEDCT/716245003
Preferred Name

Deafness craniofacial syndrome

Definitions
This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
Synonyms
Deafness craniofacial syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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