aplasie van radius	congenitale afwezigheid van radius	congenitale afwijking van perineum	congenitale dysplasie van extremiteit	dysostose	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	X-gebonden hereditaire aandoening
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syndroom van afwezige radius en anogenitale anomalieën (aandoening)
	syndroom van afwezige radius en anogenitale anomalieën
	Absent radius, anogenital anomalies syndrome
	A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.

Id	771264005
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van perineum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Associated morphology	aplasia
Finding site	botstructuur van radius
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

3016

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