autosomaal recessieve 'limb-girdle' spierdystrofie
|
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Q (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Q
'limb-girdle muscular dystrophy' door plectinedeficiëntie
autosomaal recessieve gordeldystrofie type 2Q
LGMD2Q
Autosomal recessive limb girdle muscular dystrophy type 2Q
A form of limb-girdle muscular dystrophy with characteristics of proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
Id726615005
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 map254361
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