Encephalopathy due to prosaposin deficiency   720864008

SNOMED CT code


SNOMED code720864008
nameEncephalopathy due to prosaposin deficiency
statusactive
date introduced2017-01-31
fully specified name(s)Encephalopathy due to prosaposin deficiency (disorder)
synonyms
  • Encephalopathy due to prosaposin deficiency
  • Combined prosaposin deficiency
  • Combined saposin deficiency
attributes - group1
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Encephalopathy due to prosaposin deficiency   720864008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Sphingolipidosis   238028008
              Encephalopathy due to prosaposin deficiency   720864008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Encephalopathy due to prosaposin deficiency   720864008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Encephalopathy due to prosaposin deficiency   720864008

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