'bent bone'-dysplasie	achondrogenesie	congenitale deformiteit van beide onderste extremiteiten	lengtedefect van onderste extremiteit
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campomele dysplasie (aandoening)
	campomele dysplasie
	Camptomelic dysplasia
	Campomelic dysplasia with autosomal sex reversal Campomelic dysplasia
	A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.

Id	74928006
Status	Primitive

Associated morphology	abnormaal korte groei
Finding site	gehele linker onderste extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Associated morphology	abnormaal korte groei
Finding site	gehele rechter onderste extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	structuur van skeletstelsel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.1
Term	Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte

SNOMED CT to Orphanet simple map

140

SNOMED CT to ICD-10 extended map

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified