Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT code


SNOMED code1260130005
nameProgressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
statusactive
date introduced2022-12-31
fully specified name(s)Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder)
synonyms
  • Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome
  • Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome
attributes - group5
InterpretsMovement   255324009
attributes - group4
Finding siteNervous system structure   25087005
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group6
Clinical courseProgressive   255314001
parents
  • Intellectual disability   110359009
  • Chronic nervous system disorder   128283000
  • Chronic mental disorder   128293007
  • Global developmental delay   224958001
  • Behavioral syndrome associated with physiological disturbance and physical factors   231520001
  • Developmental hereditary disorder   363070008
  • Hereditary essential tremor   609559001
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
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
          Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic mental disorder   128293007
          Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Behavioral syndrome associated with physiological disturbance and physical factors   231520001
          Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Movement disorder   60342002
        Essential tremor   609558009
          Hereditary essential tremor   609559001
            Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

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
              Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome   1260130005

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