Autosomal recessive epidermolysis bullosa simplex   1156849001

SNOMED CT code


SNOMED code1156849001
nameAutosomal recessive epidermolysis bullosa simplex
statusactive
date introduced2021-07-31
fully specified name(s)Autosomal recessive epidermolysis bullosa simplex (disorder)
synonymsAutosomal recessive epidermolysis bullosa simplex
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyEpidermolysis   85269007
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
parents
  • Epidermolysis bullosa simplex   67144006
  • Autosomal recessive hereditary disorder   85995004
children
  • Epidermolysis bullosa simplex due to BP230 deficiency   773501006
  • Epidermolysis bullosa simplex due to exophilin 5 deficiency   773503009
  • Epidermolysis bullosa simplex due to plakophilin deficiency   716699004
  • Epidermolysis bullosa simplex with muscular dystrophy   723308003
  • Epidermolysis bullosa simplex with pyloric atresia   716701004
  • KRT14 related epidermolysis bullosa simplex   724206005
  • Lethal acantholytic erosive disorder   1230026002
  • Lethal autosomal recessive epidermolysis bullosa simplex   254183000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Epidermolysis bullosa   61003004
            Epidermolysis bullosa simplex   67144006
              Autosomal recessive epidermolysis bullosa simplex   1156849001

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

ancestors
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