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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.
Id715217004
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ68.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to Orphanet simple map1154
SNOMED CT to ICD-10 extended map
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified