Developmental hereditary disorder	Fragile X chromosome	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	X-linked dominant hereditary disease
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Fragile X syndrome (disorder)
	Fragile X syndrome
	FRAXA - Fragile X syndrome Martin-Bell syndrome Marker X syndrome
	fragiele-X-syndroom
	fragiele-X-syndroom
	Erfelijke afwijking in het X-chromosoom die leidt tot een verstandelijke beperking in combinatie met specifieke gedragskenmerken, zoals een zwakke concentratie, impulsiviteit en hyperactiviteit.

Id	613003
Status	Primitive

Associated morphology	Chromosomal morphology
Finding site	Sex chromosome X
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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