autosomaal dominante hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	lengtedefect van metacarpus	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van korte os metacarpi V en insulineresistentie (aandoening)
	syndroom van korte os metacarpi V en insulineresistentie
	syndroom van korte vijfde middenhandsbeen en insulineresistentie syndroom van korte os metacarpale V en insulineresistentie
	Short fifth metacarpal insulin resistance syndrome
	A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.

Id	721069005
Status	Primitive

Associated morphology	abnormaal korte groei
Finding site	gehele bot van os metacarpi V
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q68.1
Term	Congenitale misvorming van hand

SNOMED CT to Orphanet simple map

66518

SNOMED CT to ICD-10 extended map

Target	E34.8
Rule	TRUE
Advice	ALWAYS E34.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified