Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

SNOMED CT code


SNOMED code1172627007
nameEarly-onset epilepsy, intellectual disability, brain anomalies syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder)
synonyms
  • Early-onset epilepsy, intellectual disability, brain anomalies syndrome
  • Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency
  • PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency
  • Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Global developmental delay   224958001
  • Carbohydrate-deficient glycoprotein syndrome   238049009
  • Developmental hereditary disorder   363070008
  • 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
          Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Carbohydrate-deficient glycoprotein syndrome   238049009
              Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Early-onset epilepsy, intellectual disability, brain anomalies syndrome   1172627007

ancestors
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