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autosomaal dominant multipel pterygiumsyndroom (aandoening)
autosomaal dominant multipel pterygiumsyndroom
distale artrogrypose type 8
autosomaal dominant meervoudig pterygiumsyndroom
Autosomal dominant multiple pterygium syndrome
Distal arthrogryposis type 8
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.
Id771269000
StatusDefined
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale webbing
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ79.8
RuleTRUE
AdviceALWAYS Q79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified