autosomaal recessieve hereditaire aandoening	hereditaire artrogrypose	malformatiesyndroom met betrokkenheid van meerdere systemen	skeletdysplasie
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'NIMA-related kinase 9' letale skeletdysplasie (aandoening)
	NEK9-gerelateerde letale skeletdysplasie
	'NIMA-related kinase 9' letale skeletdysplasie syndroom van letale skeletdysplasie, foetale akinesie, contractuur, thoracale dysplasie en pulmonale hypoplasie
	NEK9-related lethal skeletal dysplasia
	NIMA related kinase 9 lethal skeletal dysplasia Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated.

Id	1179299005
Status	Primitive

Has interpretation	verlaagd
Interprets	'range of motion' van gewricht

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

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

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

SNOMED CT to Orphanet simple map

464366

SNOMED CT to ICD-10 extended map

Target	Q77.2
Rule	TRUE
Advice	ALWAYS Q77.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified