Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT code


SNOMED code1208342001
nameEye defects, arachnodactyly, cardiopathy syndrome
statusactive
date introduced2022-03-31
fully specified name(s)Eye defects, arachnodactyly, cardiopathy syndrome (disorder)
synonyms
  • Eye defects, arachnodactyly, cardiopathy syndrome
  • Al Gazali Al Talabani syndrome
  • Al Gazali Lytle syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
Finding siteBone structure of extremity   48566001
attributes - group2
OccurrenceCongenital   255399007
Finding siteAnterior eyeball segment structure   32259006
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
parents
  • Dysostosis   109420003
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of anterior segment of eye   429448005
  • Heart disease   56265001
  • Congenital cardiovascular disorder   762228008
  • Autosomal recessive hereditary disorder   85995004
  • 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
              Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of anterior segment of eye   128535002
            Congenital anomaly of anterior segment of eye   429448005
              Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Congenital cardiovascular disorder   762228008
          Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

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
            Eye defects, arachnodactyly, cardiopathy syndrome   1208342001

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