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myosinebindend-eiwit C1-gerelateerde autosomaal recessieve niet-letale arthrogryposis multiplex congenita (aandoening)
MYBPC1-gerelateerde autosomaal recessieve niet-letale arthrogryposis multiplex congenita
MYBPC1-gerelateerde autosomaal recessieve niet-letale AMC
myosinebindend-eiwit C1-gerelateerde autosomaal recessieve niet-letale arthrogryposis multiplex congenita
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
A rare arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate and micrognathia.
Id1251451005
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map498693
SNOMED CT to ICD-10 extended map
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified