Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	X-linked recessive hereditary disease
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X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)
	X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
	This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.
	X-gebonden syndroom van verstandelijke beperking, epilepsie, progressieve gewrichtcontracturen en faciale dysmorfie
	X-gebonden syndroom van mentale retardatie, epilepsie, progressieve gewrichtcontracturen en faciale dysmorfie X-gebonden syndroom van verstandelijke handicap, epilepsie, progressieve gewrichtcontracturen en faciale dysmorfie

Id	719155005
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