Hyperphosphatasemia with mental retardation   33982008

SNOMED CT code


SNOMED code33982008
nameHyperphosphatasemia with mental retardation
statusactive
date introduced2002-01-31
fully specified name(s)Hyperphosphatasemia with intellectual disability (disorder)
synonyms
  • Hyperphosphatasia with seizures and neurologic deficit
  • Mabry syndrome
  • Hyperphosphatasaemia with intellectual disability
  • Hyperphosphatasemia with intellectual disability
  • Hyperphosphatasaemia with mental retardation
  • Hyperphosphatasemia with mental retardation
attributes - group1
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
  • Developmental hereditary disorder   363070008
  • Autosomal recessive hereditary disorder   85995004
  • Disorder of phosphorus metabolism   87049008
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
          Hyperphosphatasemia with mental retardation   33982008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hyperphosphatasemia with mental retardation   33982008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hyperphosphatasemia with mental retardation   33982008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of mineral metabolism   45744005
          Disorder of phosphate, calcium and vitamin D metabolism   237879001
            Disorder of phosphorus metabolism   87049008
              Hyperphosphatasemia with mental retardation   33982008

ancestors
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