Autosomal recessive muscular dystrophy with limb girdle distribution   240054004

SNOMED CT code


SNOMED code240054004
nameAutosomal recessive muscular dystrophy with limb girdle distribution
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)
synonymsAutosomal recessive 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
  • Muscular dystrophy with predominantly proximal limb girdle distribution   240046001
  • Autosomal recessive hereditary disorder   85995004
children
  • Adult onset autosomal recessive muscular dystrophy with normal dystrophin   240065009
  • Autosomal recessive limb girdle muscular dystrophy type 2A   715341003
  • Autosomal recessive limb girdle muscular dystrophy type 2B   718179003
  • Autosomal recessive limb girdle muscular dystrophy type 2C   718176005
  • Autosomal recessive limb girdle muscular dystrophy type 2D   715340002
  • Autosomal recessive limb girdle muscular dystrophy type 2E   718850008
  • Autosomal recessive limb girdle muscular dystrophy type 2F   718177001
  • Autosomal recessive limb girdle muscular dystrophy type 2G   720522001
  • Autosomal recessive limb girdle muscular dystrophy type 2I   718180000
  • Autosomal recessive limb girdle muscular dystrophy type 2J   725042001
  • Autosomal recessive limb girdle muscular dystrophy type 2K   720523006
  • Autosomal recessive limb girdle muscular dystrophy type 2L   726616006
  • Autosomal recessive limb girdle muscular dystrophy type 2M   726618007
  • Autosomal recessive limb girdle muscular dystrophy type 2N   726617002
  • Autosomal recessive limb girdle muscular dystrophy type 2O   725043006
  • Autosomal recessive limb girdle muscular dystrophy type 2P   726614009
  • Autosomal recessive limb girdle muscular dystrophy type 2Q   726615005
  • Autosomal recessive limb girdle muscular dystrophy type 2R   732931006  removed: 2021-01-31
  • Autosomal recessive limb girdle muscular dystrophy type 2S   732929002
  • Autosomal recessive limb girdle muscular dystrophy type 2T   732930007
  • Autosomal recessive limb girdle muscular dystrophy type 2U   783554002
  • Autosomal recessive limb girdle muscular dystrophy type 2Y   725907002
  • Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein   240055003
  • BVES-related limb girdle muscular dystrophy   1179295004
  • Epidermolysis bullosa simplex with muscular dystrophy   723308003
  • Hutterite type of muscular dystrophy   240064008
  • Laminin alpha-2 related limb girdle muscular dystrophy R23   1279883006
  • Limb girdle muscular dystrophy due to POMK deficiency   1234819007
  • LIMS2-related limb girdle muscular dystrophy   1179297007
  • POGLUT1-related limb girdle muscular dystrophy R21   1172703004
  • POMGNT2-related limb girdle muscular dystrophy R24   1279884000
  • Reunion-Indiana Amish type muscular dystrophy   240058001
hierarchies
a selection of possible paths
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 recessive muscular dystrophy with limb girdle distribution   240054004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive muscular dystrophy with limb girdle distribution   240054004

ancestors
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