Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT code


SNOMED code719949001
nameTrigonocephaly with broad thumb syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Trigonocephaly with broad thumb syndrome (disorder)
synonyms
  • Trigonocephaly with broad thumb syndrome
  • Hunter Rudd Hoffmann syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteDigit structure   82680008
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNasal structure   45206002
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFrontal bone structure   74872008
Associated morphologyAbnormal shape   399984000
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteStructure of frontal suture of skull   74448009
Associated morphologyCongenital premature fusion   67798003
attributes - group6
Finding siteThumb structure   76505004
parents
  • Autosomal dominant hereditary disorder   11164009
  • Disorder of hand   118933004
  • Congenital anomaly of nose   128274005
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Broad thumbs   249773003
  • Trigonocephaly   28740008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of digit   403855001
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
              Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Disorder of hand   118933004
            Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Ear, nose and throat disorder   232208008
        Disorder of the nose   89488007
          Congenital anomaly of nose   128274005
            Trigonocephaly with broad thumb syndrome   719949001

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
            Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Finding of digit of hand   313132009
            Finding of thumb   313134005
              Broad thumbs   249773003
                Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Trigonocephaly   28740008
                Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Trigonocephaly with broad thumb syndrome   719949001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Trigonocephaly with broad thumb syndrome   719949001

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
            Trigonocephaly with broad thumb syndrome   719949001

ancestors
sorted most to least specific
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