congenitale afwijking	congenitale anomalie van X-chromosoom	hereditaire ontwikkelingsstoornis	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening	X-gebonden retinitis pigmentosa
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Xp11.3-microdeletiesyndroom (aandoening)
	Xp11.3-microdeletiesyndroom
	Chromosome Xp11.3 microdeletion syndrome
	Aldred syndrome
	This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

Id	719808002
Status	Primitive

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

Associated morphology	partiële monosomie
Finding site	structuur van korte arm van chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van retina

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	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to Orphanet simple map

85332

SNOMED CT to ICD-10 extended map

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified