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syndroom van geadduceerde digiti I en artrogrypose Christian-type (aandoening)
syndroom van geadduceerde digiti I en artrogrypose Christian-type
syndroom van geadduceerde duimen en artrogrypose Christian-type
Adducted thumbs and arthrogryposis syndrome Christian type
A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Id720463009
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified