Autosomal dominant muscular dystrophy with limb girdle distribution   240067001

SNOMED CT code


SNOMED code240067001
nameAutosomal dominant muscular dystrophy with limb girdle distribution
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)
synonymsAutosomal dominant muscular dystrophy with limb girdle distribution
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDystrophy   4720007
Finding siteSkeletal muscle structure   127954009
attributes - group2
Clinical courseProgressive   255314001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Muscular dystrophy with predominantly proximal limb girdle distribution   240046001
children
  • Autosomal dominant limb girdle muscular dystrophy type 1A   719985001
  • Autosomal dominant limb girdle muscular dystrophy type 1B   718178006  removed: 2021-01-31
  • Autosomal dominant limb girdle muscular dystrophy type 1C   719986000  removed: 2021-01-31
  • Autosomal dominant limb girdle muscular dystrophy type 1D   719987009
  • Autosomal dominant limb girdle muscular dystrophy type 1E   719988004
  • Autosomal dominant limb girdle muscular dystrophy type 1F   719989007
  • Autosomal dominant limb girdle muscular dystrophy type 1G   719990003
  • Autosomal dominant limb-girdle muscular dystrophy type 1H   771334000
  • Autosomal dominant muscular dystrophy with gene located at 5q31   240068006
  • Calpain-3-related limb girdle muscular dystrophy D4   1279886003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Autosomal dominant muscular dystrophy with limb girdle distribution   240067001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hereditary progressive muscular dystrophy   193225000
            Muscular dystrophy with predominantly proximal limb girdle distribution   240046001
              Autosomal dominant muscular dystrophy with limb girdle distribution   240067001

ancestors
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