autosomaal dominante hereditaire aandoening	externe oftalmoplegie	hereditaire aandoening van visueel systeem	hereditaire aandoening van zenuwstelsel	hereditaire artrogrypose	hereditaire myopathie	myopathie met cytoplasmatische inclusielichaampjes	myopathie van extraoculaire spier
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syndroom van hereditaire 'inclusion body'-myopathie, artrogene contractuur en oftalmoplegie (aandoening)
	syndroom van hereditaire 'inclusion body'-myopathie, artrogene contractuur en oftalmoplegie
	Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
	Inclusion body myopathy type 3 Hereditary inclusion body myopathy type 3
	Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.

Id	724349009
Status	Primitive

Finding site

structuur van systema nervosum

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

Finding site

structuur van extraoculaire spier

Has interpretation	afwezig
Interprets	Movement observable

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	G71.8
Term	Overige gespecificeerde primaire spieraandoeningen

Target	Q68.8
Term	Overige gespecificeerde congenitale misvormingen van botspierstelsel

Target	H49.8
Term	Overige gespecificeerde vormen van paralytische strabismus

SNOMED CT to Orphanet simple map

79091

SNOMED CT to ICD-10 extended map

Target	G71.8
Rule	TRUE
Advice	ALWAYS G71.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H49.8
Rule	TRUE
Advice	ALWAYS H49.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q68.8
Rule	TRUE
Advice	ALWAYS Q68.8
Correlation	SNOMED CT source code to target map code correlation not specified