Frank-Ter Haar syndrome   720958002

SNOMED CT code


SNOMED code720958002
nameFrank-Ter Haar syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Frank-Ter Haar syndrome (disorder)
synonyms
  • Frank-Ter Haar syndrome
  • Ter Haar syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteCorneal structure   28726007
Associated morphologyEnlargement   442021009
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
parents
  • Skeletal dysplasia   105986008
  • Developmental delay   248290002
  • Megalocornea   268158009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Frank-Ter Haar syndrome   720958002

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
            Disorder of cornea   15250008
              Congenital anomaly of cornea   128352002
                Megalocornea   268158009
                  Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Frank-Ter Haar syndrome   720958002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Frank-Ter Haar syndrome   720958002

ancestors
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