Lethal multiple pterygium syndrome   60192008

SNOMED CT code


SNOMED code60192008
nameLethal multiple pterygium syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Lethal multiple pterygium syndrome (disorder)
synonymsLethal multiple pterygium syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteJoint structure of limb   312683002
Associated morphologyContracture   57048009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group4
Associated morphologyCongenital webbing   76640006
Pathological processPathological developmental process   308490002
Finding siteSkin structure   39937001
OccurrenceCongenital   255399007
attributes - group5
InterpretsMovement   255324009
parents
  • Multiple pterygium syndrome   205819008
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Joint deformity   250087009
  • Congenital deformity   276655000
  • Lesion of joint   298149009
  • Hereditary disorder of musculoskeletal system   363212003
  • Deformity of limb   445144002
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of skeletal muscle   89886004
  • Congenital anomaly of joint   95463009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Multiple pterygium syndrome   205819008
          Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Joint deformity   250087009
        Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Lesion of joint   298149009
            Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Lethal multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Lethal multiple pterygium syndrome   60192008

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 multiple pterygium syndrome   60192008

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 multiple pterygium syndrome   60192008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Congenital anomaly of joint   95463009
            Lethal multiple pterygium syndrome   60192008

ancestors
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