Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT code


SNOMED code724064004
namePosterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
synonyms
  • Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
  • Faulk Epstein Jones syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteUpper eyelid structure   38934000
Associated morphologyProlapse   29696001
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteBone structure of vertebra of lumbosacral junction   1148625001
OccurrenceCongenital   255399007
Associated morphologyCongenital abnormal fusion   37764001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Lesion of vertebra   13211000119109
  • Congenital ptosis   268163008
  • Congenital anomaly of lower trunk   363030001
  • Congenital anomaly of musculoskeletal structure of trunk   363032009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital fusion of spine   38827001
  • Multiple system malformation syndrome   82354003
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
              Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Finding of vertebra   298385001
          Lesion of vertebra   13211000119109
            Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Disorder of eyelid   60113004
          Ptosis of eyelid   11934000
            Congenital ptosis   268163008
              Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Disorder of trunk   128121009
        Congenital anomaly of trunk   78626001
          Congenital anomaly of lower trunk   363030001
            Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Disorder of trunk   128121009
        Congenital anomaly of trunk   78626001
          Congenital anomaly of musculoskeletal structure of trunk   363032009
            Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Vertebral column finding   119414006
        Disorder of vertebral column   699699005
          Congenital fusion of spine   38827001
            Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004

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