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 epidermolysis bullosa simplex  1156849001

Epidermolysis bullosa simplex due to BP230 deficiency   773501006

SNOMED CT code


SNOMED code773501006
nameEpidermolysis bullosa simplex due to BP230 deficiency
statusactive
date introduced2019-01-31
fully specified name(s)Epidermolysis bullosa simplex due to BP230 deficiency (disorder)
synonyms
  • Epidermolysis bullosa simplex due to BP230 deficiency
  • DST (dystonin) related epidermolysis bullosa simplex
attributes - group1
Associated morphologyEpidermolysis   85269007
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parentsAutosomal recessive epidermolysis bullosa simplex   1156849001
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 recessive hereditary disorder   85995004
              Autosomal recessive epidermolysis bullosa simplex   1156849001
                Epidermolysis bullosa simplex due to BP230 deficiency   773501006

ancestors
sorted most to least specific
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