Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT code


SNOMED code1217372003
nameSevere myopia, generalized joint laxity, short stature syndrome
statusactive
date introduced2022-04-30
fully specified name(s)Severe myopia, generalized joint laxity, short stature syndrome (disorder)
synonyms
  • Severe myopia, generalized joint laxity, short stature syndrome
  • Severe myopia, generalised joint laxity, short stature syndrome
attributes - group5
Clinical courseProgressive   255314001
attributes - group7
Due toSpontaneous event   789750003
attributes - group6
Finding siteVisual structure   49549006
attributes - group4
InterpretsBody height   1153637007
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteConnective tissue structure   21793004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
Finding siteJoint structure of multiple body sites   773190007
Associated morphologyDislocation   87642003
parents
  • Short stature disorder   237836003
  • Multiple dislocations with dysplasia   254098000
  • Musculoskeletal and connective tissue disorder   312225001
  • Severe myopia   34187009
  • Congenital connective tissue disorder   363039000
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Injury of connective tissue   385424001
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Chronic arthropathy   38850007
            Multiple dislocations with dysplasia   254098000
              Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Disorder of vision   95677002
          Disorder of refraction AND/OR accommodation   72128008
            Disorder of refraction   39021009
              Myopia   57190000
                Severe myopia   34187009
                  Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Injury of connective tissue   385424001
          Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Severe myopia, generalized joint laxity, short stature syndrome   1217372003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Severe myopia, generalized joint laxity, short stature syndrome   1217372003

ancestors
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