| syndroom van primaire microcefalie, lichte verstandelijke beperking en diabetes met aanvang op jonge leeftijd (aandoening) | | syndroom van primaire microcefalie, lichte verstandelijke beperking en diabetes met aanvang op jonge leeftijd | | syndroom van primaire microcefalie, lichte verstandelijke handicap en diabetes met aanvang op jonge leeftijd
syndroom van primaire microcefalie, lichte mentale retardatie en diabetes met aanvang op jonge leeftijd
| | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | | A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
| | Id | 782755007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 391408 |
| 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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