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syndroom van hypertelorisme, microtie en aangezichtsspleet (aandoening)
syndroom van hypertelorisme, microtie en aangezichtsspleet
syndroom van Bixler-Christian-Gorlin
HMC-syndroom
Hypertelorism with microtia and facial clefting syndrome
HMC (hypertelorism, microtia, clefting) syndrome
Bixler Christian Gorlin syndrome
A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.
Id721836009
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitestructuur van auris externa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2213
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified