Seizures and intellectual disability due to hydroxylysinuria   723994004

SNOMED CT code


SNOMED code723994004
nameSeizures and intellectual disability due to hydroxylysinuria
statusactive
date introduced2017-07-31
fully specified name(s)Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
synonyms
  • Seizures and intellectual disability due to hydroxylysinuria
  • Seizures and intellectual disability due to hydroxylysinuria syndrome
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
  • Disorder of lysine and hydroxylysine metabolism   237929000
  • 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
          Seizures and intellectual disability due to hydroxylysinuria   723994004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of lysine and hydroxylysine metabolism   237929000
                Seizures and intellectual disability due to hydroxylysinuria   723994004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Seizures and intellectual disability due to hydroxylysinuria   723994004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Seizures and intellectual disability due to hydroxylysinuria   723994004

ancestors
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