PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT code


SNOMED code1217367007
namePLAA-associated neurodevelopmental disorder
statusactive
date introduced2022-04-30
fully specified name(s)Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder)
synonyms
  • Phospholipase A2 activating protein-associated neurodevelopmental disorder
  • PLAA-associated neurodevelopmental disorder
  • PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder
attributes - group2
Clinical courseProgressive   255314001
attributes - group3
Finding siteOptic nerve structure   18234004
attributes - group4
Finding siteCerebral white matter structure   68523003
attributes - group5
Pathological processPathological developmental process   308490002
attributes - group1
InterpretsHead circumference   363812007
Has interpretationBelow reference range   281300000
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Leukoencephalopathy   22811006
            PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Inherited optic neuropathy   312942003
            PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            PLAA-associated neurodevelopmental disorder   1217367007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              PLAA-associated neurodevelopmental disorder   1217367007

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