||||
autosomaal recessieve myogene arthrogryposis multiplex congenita (aandoening)
autosomaal recessieve myogene arthrogryposis multiplex congenita
SYNE1-gerelateerde arthrogryposis multiplex congenita
autosomaal recessieve myogene AMC
Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita
SYNE1-related arthrogryposis multiplex congenita
A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life.
Id764812008
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3
CorrelationSNOMED CT source code to target map code correlation not specified