congenitaal lengtedefect van extremiteit	dysostose	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
\|	\|	\|

syndroom van radiale deficiëntie en tibiale hypoplasie (aandoening)
	syndroom van radiale deficiëntie en tibiale hypoplasie
	syndroom van radiale dysplasie en tibiale hypoplasie
	Radial deficiency, tibial hypoplasia syndrome
	A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.

Id	783137003
Status	Primitive

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

Associated morphology	abnormaal korte lengte
Finding site	gehele 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	Q71.8
Term	Overige gespecificeerde onderontwikkeling van bovenste extremiteit(en)

Target	Q72.8
Term	Overige gespecificeerde onderontwikkeling van onderste extremiteit(en)

SNOMED CT to Orphanet simple map

1121

SNOMED CT to ICD-10 extended map

Target	Q71.8
Rule	TRUE
Advice	ALWAYS Q71.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q72.8
Rule	TRUE
Advice	ALWAYS Q72.8
Correlation	SNOMED CT source code to target map code correlation not specified