syndroom van verstandelijke beperking en faciale dysmorfie door 'SET-domain containing protein 5'-haplo-insufficiëntie (aandoening) | | syndroom van verstandelijke handicap en congenitale afwijking van aangezicht door SETD5-haplo-insufficiëntie | | syndroom van mentale retardatie en faciale dysmorfie door SETD5-haplo-insufficiëntie syndroom van verstandelijke beperking en faciale dysmorfie door 'SET-domain containing protein 5'-haplo-insufficiëntie
| | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency | | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
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| Id | 782736007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 404440 |
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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