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syndroom van hypomyeliniserende neuropathie en artrogrypose (aandoening)
syndroom van hypomyeliniserende neuropathie en artrogrypose
Hypomyelination neuropathy arthrogryposis syndrome
A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
Id766931003
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypomyelinisatie
Finding sitestructuur van zenuw
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetG37.8
RuleTRUE
AdviceALWAYS G37.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3
CorrelationSNOMED CT source code to target map code correlation not specified