Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT code


SNOMED code777998000
nameTemtamy preaxial brachydactyly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Temtamy preaxial brachydactyly syndrome (disorder)
synonymsTemtamy preaxial brachydactyly syndrome
attributes - group2
Finding siteTooth structure   38199008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group4
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group3
Associated morphologyAbnormally short growth   11182007
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
Pathological processPathological developmental process   308490002
attributes - group5
InterpretsHearing   47078008
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Dysostosis   109420003
  • Intellectual disability   110359009
  • Hereditary disorder of tooth   1148766007
  • Disorder of glycoprotein metabolism   238045003
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital anomaly of tooth   422977003
  • Brachydactyly   43476002
  • Metabolic bone disease   50279003
  • Congenital sensorineural hearing loss   700453005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Temtamy preaxial brachydactyly syndrome   777998000

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
                Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Finding of mouth region   423066003
        Oral cavity finding   116337000
          Congenital abnormality of oral cavity   282041002
            Congenital anomaly of tooth   422977003
              Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of part of limb   716638009
          Brachydactyly   43476002
            Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Temtamy preaxial brachydactyly syndrome   777998000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Temtamy preaxial brachydactyly syndrome   777998000

ancestors
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