Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	X-linked recessive hereditary disease
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Syndromic X-linked intellectual disability type 11 (disorder)
	Syndromic X-linked intellectual disability type 11
	X-linked intellectual disability Shashi type
	This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.
	syndromale X-gebonden verstandelijke beperking type 11
	X-gebonden verstandelijke handicap type Shashi syndromale X-gebonden mentale retardatie type 11

Id	718900002
Status	Primitive

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	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified