autosomaal dominante hereditaire aandoening	congenitale afwijkende vorm van schedel	congenitale afwijking van bot en gewricht	craniosynostose	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	syndactylie
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craniosynostose Philadelphia-type (aandoening)
	craniosynostose Philadelphia-type
	Craniosynostosis Philadelphia type
	A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis.

Id	720818003
Status	Primitive

Associated morphology	Premature fusion
Finding site	structuur van sutura cranii
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	afwijkende vorm
Finding site	botstructuur van cranium
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	Abnormally fused structure
Finding site	structuur van digitus van hand of voet
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	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

1527

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified