Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT code


SNOMED code763778003
nameLarsen-like syndrome B3GAT3 type
statusactive
date introduced2018-07-31
fully specified name(s)Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)
synonyms
  • Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome
  • Larsen-like syndrome B3GAT3 type
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group5
Associated morphologyDislocation   87642003
Finding siteJoint structure of multiple body sites   773190007
attributes - group4
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group7
Finding siteStructure of joint region   785818007
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyContracture   57048009
attributes - group6
Clinical courseProgressive   255314001
attributes - group8
Due toSpontaneous event   789750003
parents
  • Injury of face   125593007
  • Chronic heart disease   128238001
  • Chronic metabolic disorder   128289001
  • Congenital heart disease   13213009
  • Disorder of glycoprotein metabolism   238045003
  • Multiple dislocations with dysplasia   254098000
  • Inherited arthrogryposis   28204005
  • Bone injury   284003005
  • Cardiovascular system hereditary disorder   363005004
  • Hereditary disorder of musculoskeletal system   363212003
  • Metabolic bone disease   50279003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
  • Injury of heart   86175003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Injury of face   125593007
            Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of cardiovascular system   128292002
          Chronic heart disease   128238001
            Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Larsen-like syndrome B3GAT3 type   763778003

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
              Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Traumatic or non-traumatic injury   417163006
        Injury of musculoskeletal system   105606008
          Bone injury   284003005
            Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Larsen-like syndrome B3GAT3 type   763778003

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
              Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Larsen-like syndrome B3GAT3 type   763778003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Traumatic or non-traumatic injury   417163006
        Cardiovascular injury   282728007
          Injury of heart   86175003
            Larsen-like syndrome B3GAT3 type   763778003

ancestors
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