congenitale afwijking	fragiele-X-chromosoom	hereditaire ontwikkelingsstoornis	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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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
	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).

Id	716709002
Status	Primitive

Associated morphology	chromosomale morfologie
Finding site	structuur van X-chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q99.2
Term	Fragiele-X-chromosoom

SNOMED CT to Orphanet simple map

100973

SNOMED CT to ICD-10 extended map

Target	Q99.2
Rule	TRUE
Advice	ALWAYS Q99.2
Correlation	SNOMED CT source code to target map code correlation not specified