autosomaal dominante hereditaire aandoening	congenitale afwijking van schedel	dysplasie met verminderde botdichtheid	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis
\|	\|	\|	\|	\|

syndroom van donutlaesies van calvaria en botfragiliteit (aandoening)
	syndroom van donutlaesies van calvaria en botfragiliteit
	syndroom van donutlaesies van schedeldak en botfragiliteit
	Doughnut lesion of calvaria and bone fragility syndrome
	Calvarial doughnut lesion with bone fragility syndrome Familial doughnut lesions of skull
	This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant.

Id	720598005
Status	Primitive

Associated morphology	afwijkend weefsel
Finding site	botstructuur van calvaria
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Has interpretation	onder referentiebereik
Interprets	botdensitometrie

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q75.8
Term	Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen

SNOMED CT to Orphanet simple map

85192

SNOMED CT to ICD-10 extended map

Target	Q75.8
Rule	TRUE
Advice	ALWAYS Q75.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified