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syndroom van autismespectrumstoornis, epilepsie en artrogrypose (aandoening)
syndroom van autismespectrumstoornis, epilepsie en artrogrypose
SLC35A3-CDG
Autism spectrum disorder, epilepsy, arthrogryposis syndrome
SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).
Id733623005
StatusPrimitive
Has interpretationverlaagd
InterpretsRange of joint movement
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van cerebrum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified