Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT code


SNOMED code733068001
nameAbsent tibia, polydactyly, arachnoid cyst syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
synonyms
  • Holmes Collins syndrome
  • Absent tibia, polydactyly, arachnoid cyst syndrome
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteArachnoid structure   75042008
Associated morphologyArachnoid cyst   785284009
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologySupernumerary structure   91431006
Finding siteDigit structure   82680008
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBone structure of tibia   12611008
parents
  • Congenital anomaly of tibia   123563003
  • Congenital malformation of the meninges   253199003
  • Arachnoid cyst   33595009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Polydactyly   367506006
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Finding of bone of lower limb   879910002
          Congenital anomaly of tibia   123563003
            Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital malformation of the meninges   253199003
            Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of meninges   299729001
        Disorder of meninges   15758002
          Meningeal cyst   302883007
            Arachnoid cyst   33595009
              Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Polydactyly   367506006
              Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

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
                Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Absent tibia, polydactyly, arachnoid cyst syndrome   733068001

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