autosomaal recessieve 'limb-girdle' spierdystrofie
|
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2F (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2F
delta-sarcoglycanopathie
'limb-girdle muscular dystrophy' door delta-sarcoglycaandeficiëntie
autosomaal recessieve gordeldystrofie type 2F
LGMD2F
Autosomal recessive limb girdle muscular dystrophy type 2F
Limb girdle muscular dystrophy due to delta-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy with manifestations of limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein and therefore belongs to a group of disorders named sarcoglycanopathy.
Id718177001
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 map219
SNOMED CT to ICD-10 extended map
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified