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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2D (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2D
LGMD2D
autosomaal recessieve gordeldystrofie type 2D
'limb-girdle muscular dystrophy' door alfa-sarcoglycaandeficiëntie
alfa-sarcoglycanopathie
Autosomal recessive limb girdle muscular dystrophy type 2D
Alpha-sarcoglycanopathy LGMD2D (limb girdle muscular dystrophy type 2D)
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Id715340002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.0
TermSpierdystrofie
SNOMED CT to Orphanet simple map62
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