Aplasia of fibula	autosomaal dominante hereditaire aandoening	dysostose	ectrodactylie	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van aplasie van fibula en ectrodactylie (aandoening)
	syndroom van aplasie van fibula en ectrodactylie
	Fibular aplasia and ectrodactyly syndrome
	Aplasia of fibula and ectrodactyly syndrome Familial ectrodactyly with fibular aplasia
	A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.

Id	720952001
Status	Primitive

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

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

Associated morphology	afwezigheid
Finding site	gehele digitus van hand of voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

1118

SNOMED CT to ICD-10 extended map

Target	Q72.6
Rule	TRUE
Advice	ALWAYS Q72.6 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q73.8
Rule	TRUE
Advice	ALWAYS Q73.8
Correlation	SNOMED CT source code to target map code correlation not specified