autosomaal recessieve 'limb-girdle' spierdystrofie
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'protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2'-gerelateerde 'limb-girdle'-spierdystrofie type R24 (aandoening)
POMGNT2-gerelateerde 'limb-girdle'-spierdystrofie type R24
POMGNT2-gerelateerde gordeldystrofie R24
'protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2'-gerelateerde 'limb-girdle'-spierdystrofie type R24
POMGNT2-gerelateerde LGMD R24
POMGNT2-related limb girdle muscular dystrophy R24
Limb girdle muscular dystrophy type R24
Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24
POMGNT2-related muscular dystrophy
A rare autosomal recessive limb girdle muscular dystrophy with characteristics of infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.
Id1279884000
StatusPrimitive
Clinical courseprogressief
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map565899
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified