Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT code


SNOMED code764946008
nameConstitutional mismatch repair deficiency syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Constitutional mismatch repair deficiency syndrome (disorder)
synonyms
  • CMMR-D (constitutional mismatch repair deficiency) syndrome
  • Constitutional mismatch repair deficiency syndrome
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group2
Due toChromosomal disorder   409709004
attributes - group1
OccurrenceCongenital   255399007
Finding siteImmune system structure   116003000
parents
  • Immunodeficiency associated with chromosomal abnormality   234632005
  • Congenital immunodeficiency disease   36138009
  • Hereditary disorder of immune system   363138005
  • Disorder of immune structure   414030009
  • Hereditary cancer-predisposing syndrome   699346009
  • 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
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Immunodeficiency associated with chromosomal abnormality   234632005
              Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of immune structure   414030009
          Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Constitutional mismatch repair deficiency syndrome   764946008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Constitutional mismatch repair deficiency syndrome   764946008

ancestors
sorted most to least specific
cpt crosswalks

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