Lethal congenital contracture syndrome type 2   715419004

SNOMED CT code


SNOMED code715419004
nameLethal congenital contracture syndrome type 2
statusactive
date introduced2016-07-31
fully specified name(s)Lethal congenital contracture syndrome type 2 (disorder)
synonyms
  • Lethal congenital contracture syndrome type 2
  • Multiple contracture syndrome Israeli-Bedouin type
attributes - group2
Finding siteStructure of joint region   785818007
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyContracture   57048009
attributes - group3
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAtrophy   13331008
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Lethal congenital contracture syndrome type 2   715419004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Motor dysfunction   52559000
        Akinesia   33994004
          Lethal congenital contracture syndrome type 2   715419004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Lethal congenital contracture syndrome type 2   715419004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lethal congenital contracture syndrome type 2   715419004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Degenerative disorder of muscle   363058009
          Muscle atrophy   88092000
            Lethal congenital contracture syndrome type 2   715419004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Lethal congenital contracture syndrome type 2   715419004

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