Camptodactyly taurinuria syndrome   733466005

SNOMED CT code


SNOMED code733466005
nameCamptodactyly taurinuria syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Camptodactyly taurinuria syndrome (disorder)
synonyms
  • Camptodactyly taurinuria syndrome
  • Familial streblodactyly with amino-aciduria
attributes - group1
Finding siteMusculoskeletal structure of finger   310794003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyFixed flexion deformity   788600005
parents
  • Camptodactyly of finger   1162716000
  • Hereditary camptodactyly   238855000
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Inherited aminoaciduria   698953004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of musculoskeletal structure of digit of hand   299055007
        Finding of musculoskeletal structure of finger   299056008
          Camptodactyly of finger   1162716000
            Camptodactyly taurinuria syndrome   733466005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Camptodactyly   29271008
          Hereditary camptodactyly   238855000
            Camptodactyly taurinuria syndrome   733466005

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
                Camptodactyly taurinuria syndrome   733466005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Hereditary metabolic disease   1821000146108
          Inherited aminoaciduria   698953004
            Camptodactyly taurinuria syndrome   733466005

ancestors
sorted most to least specific
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