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letaal congenitaal contractuursyndroom type 1 (aandoening)
letaal congenitaal contractuursyndroom type 1
arthrogryposis multiplex congenita van Fins type
ziekte van Herva
LCCS1
Lethal congenital contracture syndrome type 1
Herva disease
Multiple contracture syndrome Finnish type
An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Id715418007
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ68.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to Orphanet simple map1486
SNOMED CT to ICD-10 extended map
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified