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Hypertelorism with microtia and facial clefting syndrome (disorder)
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.
syndroom van hypertelorisme, microtie en aangezichtsspleet
HMC-syndroom
syndroom van Bixler-Christian-Gorlin
Id721836009
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteExternal ear structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteLip structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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