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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.
Id720502000
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1130
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified