NAD(P)HX dehydratase deficiency   1251446004

SNOMED CT code


SNOMED code1251446004
nameNAD(P)HX dehydratase deficiency
statusactive
date introduced2022-09-30
fully specified name(s)NAD(P)HX dehydratase deficiency (disorder)
synonyms
  • NAD(P)HX dehydratase deficiency
  • CARKD deficiency
attributes - group2
OccurrenceCongenital   255399007
attributes - group1
Finding siteCerebrum   83678007
Associated morphologyAtrophy   13331008
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Inherited metabolic disorder of nervous system   128190004
  • Cerebral atrophy   278849000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            NAD(P)HX dehydratase deficiency   1251446004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            NAD(P)HX dehydratase deficiency   1251446004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Cerebral degeneration   418143002
              Cerebral atrophy   278849000
                NAD(P)HX dehydratase deficiency   1251446004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              NAD(P)HX dehydratase deficiency   1251446004

ancestors
sorted most to least specific
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