Distal arthrogryposis syndrome
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Distal arthrogryposis type 5 (disorder)
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 morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
Associated morphologyContracture
Finding siteJoint structure of multiple body sites
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ68.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to ICD-10 extended map
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified