afwijkend weefsel van bot	congenitale afwijking van rib	congenitale dysplasie van thorax	genetische aandoening	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	skeletdysplasie
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syndroom van dunne ribben, buisvormige botten en dysmorfie (aandoening)
	syndroom van dunne ribben, buisvormige botten en dysmorfie
	Thin ribs, tubular bones, dysmorphism syndrome
	Sharma Kapoor Ramji syndrome
	An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.

Id	783004003
Status	Primitive

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

Associated morphology	dysplasie
Finding site	botstructuur van costa
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	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

SNOMED CT to Orphanet simple map

1506

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified