distale artrogrypose

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distale artrogrypose type 5 (aandoening)
	distale artrogrypose type 5
	oculomelic amyoplasia arthrogryposis-oftalmoplegie-retinopathie artrogrypose met oculomotorische beperking en elektroretinale anomalie distale artrogrypose met oftalmoplegie
	Arthrogryposis with oculomotor limitation and electroretinal anomaly
	Distal arthrogryposis type 5 Distal arthrogryposis with ophthalmoplegia Oculomelic amyoplasia
	An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.

Id	715217004
Status	Primitive

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	Q68.8
Term	Overige gespecificeerde congenitale misvormingen van botspierstelsel

SNOMED CT to Orphanet simple map

1154

SNOMED CT to ICD-10 extended map

Target	Q68.8
Rule	TRUE
Advice	ALWAYS Q68.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified