Stickler syndrome   78675000

SNOMED CT code


SNOMED code78675000
nameStickler syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Stickler syndrome (disorder)
synonyms
  • Stickler syndrome
  • Hereditary arthro-ophthalmopathy
  • Wagner-Stickler syndrome
  • Stickler dysplasia
  • Hereditary progressive arthro-ophthalmopathy
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteRetinal structure   5665001
OccurrenceCongenital   255399007
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDegenerative abnormality   107669003
Finding siteJoint structure   39352004
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteVitreous body structure   47538007
attributes - group6
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
parents
  • Skeletal dysplasia   105986008
  • Hereditary vitreoretinopathy   232062002
  • Congenital anomaly of bone and joint   237513002
  • Congenital malformation of vitreous humor   253236002
  • Musculoskeletal and connective tissue disorder   312225001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Osteoarthritis   396275006
  • Congenital anomaly of retina   49381001
  • Multiple system malformation syndrome   82354003
children
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
            Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Hereditary vitreoretinopathy   232062002
            Stickler syndrome   78675000

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
              Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Congenital malformation of vitreous humor   253236002
            Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of musculoskeletal system   363059001
          Osteoarthritis   396275006
            Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Congenital anomaly of retina   49381001
              Stickler syndrome   78675000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Stickler syndrome   78675000

ancestors
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