Purine-nucleoside phosphorylase deficiency   60743005

SNOMED CT code


SNOMED code60743005
namePurine-nucleoside phosphorylase deficiency
statusactive
date introduced2002-01-31
fully specified name(s)Purine-nucleoside phosphorylase deficiency (disorder)
synonyms
  • Purine-nucleoside phosphorylase deficiency
  • PNP deficiency
  • NP deficiency
  • Nucleoside phosphorylase deficiency
  • Purine nucleoside phosphorylase deficiency
  • PNP - Purine nucleoside phosphorylase deficiency
  • Deficiency of purine-nucleoside phosphorylase
  • NP - Nucleoside phosphorylase deficiency
  • Deficiency of inosine phosphorylase
attributes - group2
Pathological processAbnormal immune process   769247005
attributes - group1
OccurrenceCongenital   255399007
parents
  • Disorder of purine metabolism   32612005
  • Congenital immunodeficiency disease   36138009
  • Enzymopathy   78548001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005
            Purine-nucleoside phosphorylase deficiency   60743005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Purine-nucleoside phosphorylase deficiency   60743005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Purine-nucleoside phosphorylase deficiency   60743005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Purine-nucleoside phosphorylase deficiency   60743005

ancestors
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