hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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X-gebonden verstandelijke beperking Stevenson-type (aandoening)
	X-gebonden verstandelijke beperking Stevenson-type
	X-gebonden mentale retardatie Stevenson-type X-gebonden verstandelijke handicap Stevenson-type
	X-linked intellectual disability Stevenson type
	This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.

Id	718909001
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

85325

SNOMED CT to ICD-10 extended map

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