SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Congenital disease  66091009

Congenital methemoglobinemia  267550008

Autosomal recessive congenital methemoglobinemia   767497003

SNOMED CT code


SNOMED code767497003
nameAutosomal recessive congenital methemoglobinemia
statusactive
date introduced2018-07-31
fully specified name(s)Autosomal recessive congenital methemoglobinemia (disorder)
synonyms
  • Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency
  • Congenital NADH-methaemoglobin reductase deficiency
  • Congenital NADH-methemoglobin reductase deficiency
  • Cytochrome b5 reductase deficiency
  • Congenital methaemoglobinaemia due to NADH-cytochrome b5 reductase 3 deficiency
  • NADH-methaemoglobin reductase deficiency
  • NADH-methemoglobin reductase deficiency
  • Chronic familial methemoglobin reductase deficiency
  • Chronic familial methaemoglobin reductase deficiency
  • Autosomal recessive congenital methemoglobinemia
  • Autosomal recessive congenital methaemoglobinaemia
attributes - group1
Finding siteErythrocyte   41898006
OccurrenceCongenital   255399007
parents
  • Congenital methemoglobinemia   267550008
  • Hereditary red blood cell disorder   414394009
  • Autosomal recessive hereditary disorder   85995004
children
  • Autosomal recessive congenital methemoglobinemia type I   767499000
  • Autosomal recessive congenital methemoglobinemia type II   767498008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital methemoglobinemia   267550008
          Autosomal recessive congenital methemoglobinemia   767497003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Red blood cell disorder   38292009
          Hereditary red blood cell disorder   414394009
            Autosomal recessive congenital methemoglobinemia   767497003

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 congenital methemoglobinemia   767497003

ancestors
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