congenitale afwijking van oorlel	dysostose	genetische aandoening	polydactylie van hand	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	polysyndactylie	syndactylie van tenen
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syndroom van syndactylie, polydactylie en malformatie van oorlel (aandoening)
	syndroom van syndactylie, polydactylie en malformatie van oorlel
	Syndactyly, polydactyly, ear lobe syndrome
	A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.

Id	783700001
Status	Primitive

Associated morphology	abnormaal gefuseerde structuur
Finding site	structuur van digitus van voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	accessoire structuur
Finding site	structuur van digitus van hand, exclusief digitus I
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van oorlel
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	Q87.2
Term	Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten

SNOMED CT to Orphanet simple map

3259

SNOMED CT to ICD-10 extended map

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified