| 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. |
| | Id | 721836009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 2213 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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