akinesie	autosomaal recessieve hereditaire aandoening	congenitale afwijking van skeletspier	hereditaire artrogrypose	hereditaire myopathie
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syndroom van foetale akinesie, cerebrale bloeding en retinale bloeding (aandoening)
	syndroom van foetale akinesie, cerebrale bloeding en retinale bloeding
	letaal congenitaal contractuursyndroom type 5 LCCS5
	Lethal congenital contracture syndrome type 5
	Fetal akinesia, cerebral and retinal hemorrhage syndrome
	A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

Id	763346009
Status	Primitive

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

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	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	G71.2
Term	Congenitale myopathieën

SNOMED CT to Orphanet simple map

363409

SNOMED CT to ICD-10 extended map

Target	G71.2
Rule	TRUE
Advice	ALWAYS G71.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified