Autosomal recessive hereditary disorder
Congenital hereditary muscular dystrophy
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Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)
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.
congenitale spierdystrofie met integrine alfa-7-deficiëntie
congenitale spierdystrofie met ITGA7-deficiëntie
Id771267003
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified