Developmental hereditary disorder	Intellectual disability	Multiple system malformation syndrome	X-linked recessive hereditary disease
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Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)
	Syndromic X-linked intellectual disability due to JARID1C mutation
	Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation
	This syndrome is characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.
	syndromale X-gebonden verstandelijke handicap door JARID1C-mutatie
	syndromale X-gebonden mentale retardatie door 'jumonji at-rich interactive domain 1c'-mutatie syndromale X-gebonden verstandelijke beperking door 'jumonji at-rich interactive domain 1c'-mutatie

Id	719161008
Status	Primitive

Associated morphology	Morphologically abnormal 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