anetodermie	congenitale afwijking van benig skelet	congenitale afwijking van huid	congenitale dysplasie van kraakbenige en fibreuze componenten van skelet	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van bindweefsel	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis	osteochondropathie
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syndroom van exostose, anetodermie en brachydactylie type E (aandoening)
	syndroom van exostose, anetodermie en brachydactylie type E
	syndroom van exostosis, anetodermie en brachydactylie type E
	Exostosis, anetoderma, brachydactyly type E syndrome
	Exostosis, anetodermia, brachydactyly type E syndrome
	An association reported in a single kindred with characteristics of the variable presence of the following features: anetoderma (macular atrophy of the skin), multiple exostoses and brachydactyly type E. There have been no further descriptions in the literature since 1985.

Id	733416004
Status	Primitive

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

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

Associated morphology	Focal atrophy with macular pattern
Finding site	structuur van huid
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	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

SNOMED CT to Orphanet simple map

1962

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified