Chronic metabolic disorder
Congenital hereditary muscular dystrophy
Inborn error of metabolism
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Congenital muscular dystrophy without intellectual disability (disorder)
Congenital muscular dystrophy without intellectual disability
A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
congenitale spierdystrofie zonder verstandelijke beperking
CMD zonder verstandelijke handicap
congenitale musculaire dystrofie zonder mentale retardatie
Id783175003
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified