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 Stoll type (disorder)
	X-linked intellectual disability Stoll type
	This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.
	X-gebonden verstandelijke beperking Stoll-type
	X-gebonden verstandelijke handicap Stoll-type X-gebonden mentale retardatie Stoll-type

Id	718911005
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