autosomaal dominante hereditaire aandoening	distale artrogrypose	hereditaire artrogrypose	meervoudig pterygium-syndroom
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autosomaal dominant multipel pterygiumsyndroom (aandoening)
	autosomaal dominant multipel pterygiumsyndroom
	autosomaal dominant meervoudig pterygiumsyndroom distale artrogrypose type 8
	Autosomal dominant multiple pterygium syndrome
	Distal arthrogryposis type 8
	A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

Id	771269000
Status	Defined

Associated morphology	contractuur
Finding site	structuur van gewrichtsregio
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	verlaagd
Interprets	'range of motion' van gewricht

Associated morphology	congenitale webbing
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	contractuur
Finding site	structuur van gewricht van meerdere lichaamsregio's

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q79.8
Term	Overige gespecificeerde congenitale misvormingen van botspierstelsel

SNOMED CT to Orphanet simple map

65743

SNOMED CT to ICD-10 extended map

Target	Q79.8
Rule	TRUE
Advice	ALWAYS Q79.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified