Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009

SNOMED CT code


SNOMED code362993009
nameAutosomal recessive SCID (severe combined immunodeficiency disease)
statusactive
date introduced2002-01-31
fully specified name(s)Autosomal recessive severe combined immunodeficiency disease (disorder)
synonyms
  • Autosomal recessive severe combined immunodeficiency disease
  • Autosomal recessive SCID (severe combined immunodeficiency disease)
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteBody system structure   91689009
parents
  • Severe combined immunodeficiency disease   31323000
  • Autosomal recessive hereditary disorder   85995004
children
  • Adenosine deaminase deficiency   44940001
  • Autosomal recessive severe combined immunodeficiency   190993005  removed: 2022-05-31
  • Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency   1229941002
  • Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency   1229940001
  • Combined immunodeficiency due to CD3gamma deficiency   725135004
  • Combined immunodeficiency due to partial RAG1 deficiency   725290000
  • Combined immunodeficiency due to ZAP70 deficiency   716378008
  • Hepatic veno-occlusive disease with immunodeficiency syndrome   724361001
  • Immunodeficiency by defective expression of human leukocyte antigen class 1   725136003
  • LIG4 syndrome   724177005
  • Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome   721977007
  • Severe combined immunodeficiency due to CARD11 deficiency   771517009
  • Severe combined immunodeficiency due to CORO1A deficiency   1229942009
  • Severe combined immunodeficiency due to CTPS1 deficiency   763623001
  • Severe combined immunodeficiency due to DCLRE1C deficiency   715982006
  • Severe combined immunodeficiency due to IKK2 deficiency   782751003
  • Severe combined immunodeficiency due to LAT deficiency   1179284005
  • Severe combined immunodeficiency due to LCK deficiency   783617001
  • Severe combined immunodeficiency with hypereosinophilia   722067005
  • Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome   720853005
  • Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome   720345008
  • Short-limb skeletal dysplasia with severe combined immunodeficiency   789777007
  • T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency   718107000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Severe combined immunodeficiency disease   31323000
            Autosomal recessive SCID (severe combined immunodeficiency disease)   362993009

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 SCID (severe combined immunodeficiency disease)   362993009

ancestors
sorted most to least specific
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