Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome   773692000

SNOMED CT code


SNOMED code773692000
nameLate-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
synonyms
  • Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
  • Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEnamel structure   76993005
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyEpidermolysis   85269007
Finding siteSkin structure   39937001
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome   773692000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Epidermolysis bullosa   61003004
            Junctional epidermolysis bullosa   399971009
              Localized junctional epidermolysis bullosa   254191009
                Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome   773692000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Amelogenesis imperfecta   78494001
            Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome   773692000

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