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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
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
Id716709002
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
TargetQ99.2
TermFragiele-X-chromosoom
SNOMED CT to Orphanet simple map100973
SNOMED CT to ICD-10 extended map
TargetQ99.2
RuleTRUE
AdviceALWAYS Q99.2
CorrelationSNOMED CT source code to target map code correlation not specified