autosomaal dominante hereditaire aandoening	congenitale afwijking van benig skelet	congenitale dysplasie van extremiteit	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	skeletdysplasie
\|	\|	\|	\|	\|	\|	\|

engelvormige falango-epifysaire dysplasie (aandoening)
	engelvormige falango-epifysaire dysplasie
	ASPED
	Angel-shaped phalangoepiphyseal dysplasia
	Angel-shaped phalango-epiphyseal dysplasia ASPED - angel-shaped phalango-epiphyseal dysplasia
	A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

Id	720984008
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur van extremiteit
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	Q78.8
Term	Overige gespecificeerde osteochondrodysplasieën

SNOMED CT to Orphanet simple map

63442

SNOMED CT to ICD-10 extended map

Target	Q78.8
Rule	TRUE
Advice	ALWAYS Q78.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified