SNOMED CT Concept  138875005

Clinical finding  404684003

Procedure related finding  127325009

Evaluation finding  441742003

Genetic finding  106221001

NUDT15 deficiency   781386002

SNOMED CT code


SNOMED code781386002
nameNUDT15 deficiency
statusactive
date introduced2019-01-31
fully specified name(s)Deficiency of nudix hydrolase 15 (disorder)
synonyms
  • Deficiency of nudix hydrolase 15
  • Thiopurine poor metaboliser 2
  • NUDT15 deficiency
  • Thiopurine poor metabolizer 2
  • Nucleotide diphosphatase deficiency
attributes - group1
InterpretsGenetic test   405824009
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Genetic finding   106221001
          NUDT15 deficiency   781386002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              NUDT15 deficiency   781386002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005
            NUDT15 deficiency   781386002

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