| syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming (aandoening) | | syndroom van ernstige microbrachycefalie, verstandelijke beperking en athetoïde cerebrale verlamming | | syndroom van ernstige microbrachycefalie, mentale retardatie en athetoïde cerebrale parese
syndroom van ernstige microbrachycefalie, verstandelijke handicap en athetoïde cerebrale paralyse
| | Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome | | An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
| | Id | 783005002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
|
| SNOMED CT to Orphanet simple map | 1236 |
| 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 |
|
|
