Fine Lubinsky syndrome   720955004

SNOMED CT code


SNOMED code720955004
nameFine Lubinsky syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Fine Lubinsky syndrome (disorder)
synonyms
  • Brachycephaly, deafness, cataract, intellectual disability syndrome
  • Fine Lubinsky syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of cranium   89546000
Associated morphologyDeformity   6081001
attributes - group3
Finding siteAuditory structure   91159003
attributes - group4
InterpretsHearing   47078008
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Brachycephaly   13649004
  • Hearing loss associated with syndrome   232333009
  • Congenital abnormality of skull shape   254023004
  • Congenital deformity   276655000
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Deformation of bone   298356007
        Brachycephaly   13649004
          Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Congenital abnormality of skull shape   254023004
              Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Fine Lubinsky syndrome   720955004

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
              Fine Lubinsky syndrome   720955004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Fine Lubinsky syndrome   720955004

ancestors
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