Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT code


SNOMED code1187212004
nameSevere hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
statusactive
date introduced2021-11-30
fully specified name(s)Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)
synonymsSevere hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
attributes - group4
InterpretsMuscle tone   6918002
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteEye region structure   371398005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteCardiac septum structure   10746000
Pathological processPathological developmental process   308490002
Associated morphologyAbnormal communication   783804002
parents
  • Developmental delay   248290002
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Decreased muscle tone   398151007
  • Poor muscle tone   398152000
  • Congenital septal defect of heart   59494005
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of skeletal muscle   89886004
  • Congenital strabismus   95509009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Muscle tone - finding   366725004
        Decreased muscle tone   398151007
          Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Poor muscle tone   398152000
        Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Cardiac septal defects   253273004
              Congenital septal defect of heart   59494005
                Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

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 hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

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 hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

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
            Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital strabismus   95509009
            Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004

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