| syndroom van verstandelijke beperking, epileptische aanvallen, macrocefalie en obesitas (aandoening) | | syndroom van verstandelijke beperking, epileptische aanvallen, macrocefalie en obesitas | | syndroom van verstandelijke beperking, insulten, macrocefalie en obesitas
syndroom van verstandelijke handicap, convulsies, macrocefalie en obesitas
| | Intellectual disability, seizures, macrocephaly, obesity syndrome | | A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
| | Id | 770750002 | | 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 | 369950 |
| 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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