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Terminology chevron_right Concepts chevron_right 720864008

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720864008
The component that hold information about this concept.
Encephalopathy due to prosaposin deficiency (disorder)
Combined saposin deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Encephalopathy due to prosaposin deficiency (disorder)

SCTID: 720864008, Primitive, Active


720864008|Encephalopathy due to prosaposin deficiency (disorder)|
  • en Combined saposin deficiency
  • en Combined prosaposin deficiency
  • en Encephalopathy due to prosaposin deficiency
  • en Encephalopathy due to prosaposin deficiency (disorder)

720864008 |Encephalopathy due to prosaposin deficiency (disorder)|

<<< 81308009 |Disorder of brain (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    238028008 |Sphingolipidosis (disorder)| :
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

5287698011 - Combined saposin deficiency (en) View

5287698011
en
Synonym (core metadata concept)
Combined saposin deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3322344016 - Combined prosaposin deficiency (en) View

3322344016
en
Synonym (core metadata concept)
Combined prosaposin deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3322343010 - Encephalopathy due to prosaposin deficiency (en) View

3322343010
en
Synonym (core metadata concept)
Encephalopathy due to prosaposin deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3322342017 - Encephalopathy due to prosaposin deficiency (disorder) (en) View

3322342017
en
Fully specified name (core metadata concept)
Encephalopathy due to prosaposin deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

128190004 View

128190004
Inherited metabolic disorder of nervous system (disorder)
Inherited metabolic disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

81308009 View

81308009
Disorder of brain (disorder)
Encephalopathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238028008 View

238028008
Sphingolipidosis (disorder)
Sphingolipidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (214eafec-0cc6-5305-a9ae-8e6b5d2eb46a) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.2
TRUE
ALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
esc