Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT code


SNOMED code1217371005
nameInfantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
statusactive
date introduced2022-04-30
fully specified name(s)Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
synonyms
  • Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome
  • SYT1-related neurodevelopmental disorder
  • Synaptotagmin 1-related neurodevelopmental disorder
  • Baker Gordon syndrome
attributes - group5
InterpretsMovement   255324009
attributes - group3
Finding siteSkeletal muscle structure   127954009
attributes - group4
Finding siteNervous system structure   25087005
attributes - group2
InterpretsMuscle tone   6918002
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteVisual structure   49549006
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Congenital anomaly of visual system   127329003
  • Global developmental delay   224958001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Decreased muscle tone   398151007
  • Movement disorder   60342002
  • Disorder of skeletal muscle   75047002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Muscle tone - finding   366725004
        Decreased muscle tone   398151007
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005

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