syndroom van FRAXE en verstandelijke beperking (aandoening)
syndroom van FRAXE en verstandelijke beperking
FRAXE-syndroom en verstandelijke handicap
syndroom van FRAXE en mentale retardatie
FRAXE intellectual disability syndrome
Intellectual disability associated with fragile site FRAXE
FRAXE is a form of nonsyndromic X-linked intellectual disability with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28).
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map100973
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q99.2
CorrelationSNOMED CT source code to target map code correlation not specified