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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
Id782736007
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map404440
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified