Anomaly of chromosome X	Congenital malformation	Developmental hereditary disorder	Intellectual disability	X-linked recessive hereditary disease	X-linked retinitis pigmentosa
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Chromosome Xp11.3 microdeletion syndrome (disorder)
	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.
	Xp11.3-microdeletiesyndroom

Id	719808002
Status	Primitive

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

Associated morphology	Partial monosomy
Finding site	Short arm of chromosome
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dystrophy
Finding site	Retinal structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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