5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT code


SNOMED code725289009
name5-amino-4-imidazole carboxamide ribosiduria
statusactive
date introduced2017-07-31
fully specified name(s)5-amino-4-imidazole carboxamide ribosiduria (disorder)
synonyms
  • 5-amino-4-imidazole carboxamide ribosiduria
  • ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency
  • AICA (5-amino-4-imidazole carboxamide) ribosiduria
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteMacula lutea structure   82859000
Associated morphologyDystrophy   4720007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Hereditary macular dystrophy   276436007
  • Disorder of purine metabolism   32612005
  • Developmental hereditary disorder   363070008
  • Congenital anomaly of macula   4041005
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital anomaly of limb   60475009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Hereditary retinal dystrophy   41799005
            Hereditary macular dystrophy   276436007
              5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005
            5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Macula finding   247143009
            Macular disorder   312999006
              Congenital anomaly of macula   4041005
                5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          5-amino-4-imidazole carboxamide ribosiduria   725289009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              5-amino-4-imidazole carboxamide ribosiduria   725289009

ancestors
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