SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Enzymopathy  78548001

Specific enzyme deficiency  129456006

Deficiency of transferase  124237001

Deficiency of mevalonate kinase  124327008

Hyperimmunoglobulinemia D with periodic fever   403834003

SNOMED CT code


SNOMED code403834003
nameHyperimmunoglobulinemia D with periodic fever
statusactive
date introduced2003-07-31
fully specified name(s)Hyperimmunoglobulinemia D with periodic fever (disorder)
synonyms
  • Hyper-IgD periodic fever syndrome
  • HIDS - hyper-IgD periodic fever syndrome
  • Hyper-immunoglobulin D periodic fever syndrome
  • Hyperimmunoglobulinemia D with periodic fever
  • Hyperimmunoglobulinaemia D with periodic fever
  • Periodic fever Dutch type
attributes - group1
Associated morphologyInflammatory morphology   409774005
Finding siteImmune system structure   116003000
Pathological processAbnormal immune process   769247005
attributes - group2
Clinical courseRecurrent   255227004
attributes - group3
InterpretsBody temperature   386725007
Has interpretationAbove reference range   281302008
parents
  • Deficiency of mevalonate kinase   124327008
  • Disorder of lipid metabolism   267431006
  • 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
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of transferase   124237001
              Deficiency of mevalonate kinase   124327008
                Hyperimmunoglobulinemia D with periodic fever   403834003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid metabolism   267431006
            Hyperimmunoglobulinemia D with periodic fever   403834003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Hyperimmunoglobulinemia D with periodic fever   403834003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Recurrent disease   58184002
        Hereditary periodic fever   402790006
          Hyperimmunoglobulinemia D with periodic fever   403834003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hyperimmunoglobulinemia D with periodic fever   403834003

ancestors
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