Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT code


SNOMED code720568003
nameBrachydactyly and arterial hypertension syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Brachydactyly and arterial hypertension syndrome (disorder)
synonyms
  • Brachydactyly and arterial hypertension syndrome
  • Bilginturan brachydactyly
  • Bilginturan syndrome
  • Brachydactyly type E with short stature and hypertension
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire digit   361367007
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of hand   24097009
Associated morphologyDysplasia   25723000
attributes - group4
Pathological processPathological developmental process   308490002
Finding siteSystemic circulatory system structure   51840005
attributes - group3
Has interpretationIncreased   35105006
InterpretsBlood pressure   75367002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hypertensive disorder   38341003
  • Brachydactyly syndrome type E   63711009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiovascular measurement - finding   366157005
        Hypertensive disorder   38341003
          Brachydactyly and arterial hypertension syndrome   720568003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Finding of bone in hand   299043001
            Brachydactyly syndrome type E   63711009
              Brachydactyly and arterial hypertension syndrome   720568003

ancestors
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