Holt-Oram syndrome   19092004

SNOMED CT code


SNOMED code19092004
nameHolt-Oram syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Holt-Oram syndrome (disorder)
synonyms
  • Holt Oram syndrome
  • Holt-Oram syndrome
  • Heart-hand syndrome type 1
  • Atriodigital dysplasia type 1
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of upper limb   371195002
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteHeart structure   80891009
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group3
Finding siteCardiac conducting system structure   24964005
parents
  • Dysostosis   109420003
  • Autosomal dominant hereditary disorder   11164009
  • Congenital heart disease   13213009
  • Finding of bone of upper limb   298756009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital anomaly of upper limb   66510004
  • Cardiac arrhythmia   698247007
  • Congenital dysplasia of limb   88631000119105
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
              Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Holt-Oram syndrome   19092004

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
                Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Disorder of upper limb   118947000
          Congenital anomaly of upper limb   66510004
            Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac arrhythmia   698247007
            Holt-Oram syndrome   19092004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Holt-Oram syndrome   19092004

ancestors
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