SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Disorder of immune function  414029004

Hereditary disorder of immune system  363138005

OTULIN-related autoinflammatory syndrome   765435009

SNOMED CT code


SNOMED code765435009
nameOTULIN-related autoinflammatory syndrome
statusactive
date introduced2018-07-31
fully specified name(s)OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)
synonyms
  • Otulipenia
  • OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome
  • OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome
  • OTULIN-related autoinflammatory syndrome
  • Infantile-onset periodic fever, panniculitis, dermatosis syndrome
attributes - group1
Associated morphologyInflammatory morphology   409774005
Pathological processAbnormal immune process   769247005
Finding siteImmune system structure   116003000
attributes - group3
Clinical courseRecurrent   255227004
attributes - group2
InterpretsBody temperature   386725007
Has interpretationAbove reference range   281302008
parents
  • Hereditary disorder of immune system   363138005
  • Hereditary periodic fever   402790006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          OTULIN-related autoinflammatory syndrome   765435009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Recurrent disease   58184002
        Hereditary periodic fever   402790006
          OTULIN-related autoinflammatory syndrome   765435009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              OTULIN-related autoinflammatory syndrome   765435009

ancestors
sorted most to least specific
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