autosomaal recessieve 'limb-girdle' spierdystrofie
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autosomaal recessieve 'limb-girdle'-spierdystrofie type 2P (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2P
LGMD2P
Autosomal recessive limb girdle muscular dystrophy type 2P
A form of limb-girdle muscular dystrophy with characteristics of slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles and contractures of the ankles.
Id726614009
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 map280333
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