syndroom van macrocefalie, verstandelijke beperking en autisme (aandoening) | | syndroom van macrocefalie, verstandelijke beperking en autisme | | syndroom van macrocefalie, verstandelijke handicap en autisme syndroom van macrocefalie, mentale retardatie en autisme
| | Macrocephaly, intellectual disability, autism syndrome | | A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum. |
| Id | 783089006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 210548 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | 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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