autosomaal recessieve hereditaire aandoening
congenitale musculaire dystrofie
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congenitale spierdystrofie met integrine alfa-7-deficiëntie (aandoening)
congenitale spierdystrofie met integrine alfa-7-deficiëntie
congenitale spierdystrofie met ITGA7-deficiëntie
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with ITGA7 deficiency
Congenital muscular dystrophy with ITGA7 (integrin alpha-7) deficiency
A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
Id771267003
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathieën
SNOMED CT to Orphanet simple map34520
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified