SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/723442008
http://purl.bioontology.org/ontology/SNOMEDCT/723442008
Preferred Name

Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome

Definitions
An extremely rare syndrome with characteristics of multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Consanguinity in the family suggested autosomal recessive inheritance.
Synonyms
Stoelinga de Koomen Davis syndrome
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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