Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation   1172892009

SNOMED CT code


SNOMED code1172892009
nameAutosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation
statusactive
date introduced2021-09-30
fully specified name(s)Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder)
synonyms
  • Autosomal recessive primary immunodeficiency due to RORC mutation
  • Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation
  • Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation
  • Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation
attributes - group1
Pathological processAbnormal immune process   769247005
parents
  • Mendelian susceptibility to mycobacterial disease   1172895006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Mendelian susceptibility to mycobacterial disease   1172895006
            Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation   1172892009

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 mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation   1172892009

ancestors
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