syndroom van arachnodactylie en verstandelijke beperking met faciale dysmorfie (aandoening) | | syndroom van arachnodactylie en verstandelijke beperking met faciale dysmorfie | | syndroom van spinnenkopvingers en verstandelijke beperking met faciale dysmorfie De Die-Smulders-Vles-Fryns-syndroom syndroom van De Die-Smulders-Vles-Fryns
| | Arachnodactyly and intellectual disability with facial dysmorphism syndrome | | De Die, Smulders, Vles, Fryns syndrome
| | This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients. |
| Id | 720502000 | 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 | 1130 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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