Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT code


SNOMED code721075001
nameShort tarsus with absence of lower eyelashes syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Short tarsus with absence of lower eyelashes syndrome (disorder)
synonyms
  • Short tarsus with absence of lower eyelashes syndrome
  • Lopes Gorlin syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire eyelashes   367575006
Associated morphologyAbsence   418560003
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire tarsal bone   108372004
parents
  • Autosomal dominant hereditary disorder   11164009
  • Longitudinal deficiency of tarsal bone   29581008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital absence of eyelash   63935007
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
              Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformation of bone   298356007
        Deformity of bone in foot   299561000
          Longitudinal deficiency of tarsal bone   29581008
            Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Short tarsus with absence of lower eyelashes syndrome   721075001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Congenital alopecia   2965006
                Congenital absence of eyelash   63935007
                  Short tarsus with absence of lower eyelashes syndrome   721075001

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
              Short tarsus with absence of lower eyelashes syndrome   721075001

ancestors
sorted most to least specific
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