Anhidrotic ectodermal dysplasia with immune deficiency   703525006

SNOMED CT code


SNOMED code703525006
nameAnhidrotic ectodermal dysplasia with immune deficiency
statusactive
date introduced2014-07-31
fully specified name(s)Anhidrotic ectodermal dysplasia with immune deficiency (disorder)
synonyms
  • Hypohidrotic ectodermal dysplasia with immune deficiency
  • Hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia
  • Anhidrotic ectodermal dysplasia with immune deficiency
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group6
Associated morphologyMorphologically abnormal structure   49755003
Finding siteTooth structure   38199008
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group7
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
attributes - group5
InterpretsSweating   415691001
Has interpretationAbnormal   263654008
attributes - group4
Associated withChromosomal disorder   409709004
parents
  • Immunodeficiency associated with chromosomal abnormality   234632005
  • Ectodermal dysplasia with hair-tooth-nail-sweating defect   239006001
  • Congenital immunodeficiency disease   36138009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Immunodeficiency associated with chromosomal abnormality   234632005
              Anhidrotic ectodermal dysplasia with immune deficiency   703525006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Finding of sweating   297978007
        Ectodermal dysplasia with sweating defect   239048008
          Ectodermal dysplasia with tooth-sweating defect   239042009
            Ectodermal dysplasia with tooth-nail-sweating defect   399974001
              Ectodermal dysplasia with hair-tooth-nail-sweating defect   239006001
                Anhidrotic ectodermal dysplasia with immune deficiency   703525006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Anhidrotic ectodermal dysplasia with immune deficiency   703525006

ancestors
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