| syndroom van hypoplasie van substantia alba, agenesie van corpus callosum en verstandelijke beperking (aandoening) | | syndroom van hypoplasie van substantia alba, agenesie van corpus callosum en verstandelijke beperking | | syndroom van wittestofhypoplasie, afwezigheid van corpus callosum en verstandelijke handicap
syndroom van hypoplasie van substantia alba, agenesie van corpus callosum en mentale retardatie
| | White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome | | Curatolo Cilio Pessagno syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
| | Id | 783703004 | | 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 |
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| SNOMED CT to Orphanet simple map | 3207 |
| 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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