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X-gebonden syndroom van verstandelijke beperking, ataxie en apraxie (aandoening)
X-gebonden syndroom van verstandelijke beperking, ataxie en apraxie
X-gebonden syndroom van verstandelijke handicap, ataxie en apraxie
X-gebonden syndroom van mentale retardatie, ataxie en apraxie
X-linked intellectual disability with ataxia and apraxia syndrome
This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.
Id718845002
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
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map85338
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified