Epidermolysis bullosa simplex with muscular dystrophy   723308003

SNOMED CT code


SNOMED code723308003
nameEpidermolysis bullosa simplex with muscular dystrophy
statusactive
date introduced2017-07-31
fully specified name(s)Epidermolysis bullosa simplex with muscular dystrophy (disorder)
synonyms
  • Epidermolysis bullosa simplex with muscular dystrophy
  • Limb girdle muscular dystrophy with epidermolysis bullosa simplex
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteStratum germinativum   62650009
Associated morphologyEpidermolysis   85269007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDystrophy   4720007
Finding siteSkeletal muscle structure   127954009
attributes - group3
Clinical courseProgressive   255314001
parents
  • Congenital hereditary muscular dystrophy   111501005
  • Chronic disease of skin   128236002
  • Autosomal recessive muscular dystrophy with limb girdle distribution   240054004
  • Basal epidermolysis bullosa simplex   723163000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Muscular dystrophy   73297009
          Hereditary progressive muscular dystrophy   193225000
            Congenital hereditary muscular dystrophy   111501005
              Epidermolysis bullosa simplex with muscular dystrophy   723308003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of skin   128236002
          Epidermolysis bullosa simplex with muscular dystrophy   723308003

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
                Epidermolysis bullosa simplex with muscular dystrophy   723308003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative skin disorder   396325007
          Epidermolysis bullosa   61003004
            Epidermolysis bullosa simplex   67144006
              Basal epidermolysis bullosa simplex   723163000
                Epidermolysis bullosa simplex with muscular dystrophy   723308003

ancestors
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