autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitale afwijking van myocard	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van cardiovasculair systeem	hereditaire aandoening van visueel systeem	hereditaire myopathie	hereditaire ontwikkelingsstoornis	hypertrofische mitochondriale cardiomyopathie	mitochondriale myopathie	secundaire myopathie
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syndroom van congenitaal cataract, hypertrofische cardiomyopathie en mitochondriale myopathie (aandoening)
	syndroom van congenitaal cataract, hypertrofische cardiomyopathie en mitochondriale myopathie
	syndroom van Sengers
	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
	Sengers syndrome
	Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

Id	717812000
Status	Primitive

Due to

mitochondriale cytopathie

Finding site

structuur van skeletspier

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypertrofie
Finding site	structuur van myocardium
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

1369

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified