X-linked muscular dystrophy with limb girdle distribution   240047005

SNOMED CT code


SNOMED code240047005
nameX-linked muscular dystrophy with limb girdle distribution
statusactive
date introduced2002-01-31
fully specified name(s)X-linked muscular dystrophy with limb girdle distribution (disorder)
synonymsX-linked muscular dystrophy with limb girdle distribution
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDystrophy   4720007
Finding siteSkeletal muscle structure   127954009
attributes - group2
Clinical courseProgressive   255314001
parents
  • Congenital hereditary muscular dystrophy   111501005
  • X-linked hereditary disease   128430005
  • Muscular dystrophy with predominantly proximal limb girdle distribution   240046001
children
  • X-linked limb girdle muscular dystrophy with normal dystrophin   240051007
  • X-linked muscular dystrophy with abnormal dystrophin   240048000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Congenital hereditary muscular dystrophy   111501005
              X-linked muscular dystrophy with limb girdle distribution   240047005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked muscular dystrophy with limb girdle distribution   240047005

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
              X-linked muscular dystrophy with limb girdle distribution   240047005

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