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Terminology chevron_right Concepts chevron_right 1003375005

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1003375005
The component that hold information about this concept.
Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)
Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)

SCTID: 1003375005, Defined, Active


1003375005|Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)|
  • en Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency
  • en Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)

1003375005 |Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)|

=== 396338004 |Metachromatic leucodystrophy (disorder)| +
    1153623003 |Disorder of nerve due to metabolic disease (disorder)| +
    87536007 |Central nervous system complication (disorder)| :
        { 42752001 |Due to (attribute)| = 68390005 |Sphingolipid activator protein 1 deficiency (disorder)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

4168108017 - Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (en) View

4168108017
en
Synonym (core metadata concept)
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

4168107010 - Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) (en) View

4168107010
en
Fully specified name (core metadata concept)
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (15686673025) - 1003375005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587928029) - 1003375005 -> 1153623003 (116680003) View

116680003 |Is a (attribute)|
1153623003 |Disorder of nerve due to metabolic disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587929021) - 1003375005 -> 87536007 (116680003) View

116680003 |Is a (attribute)|
87536007 |Central nervous system complication (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587930027) - 1003375005 -> 54115001 (363698007) View

363698007 |Finding site (attribute)|
54115001 |Myelinated nerve fiber structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587931028) - 1003375005 -> 125495003 (116676008) View

116676008 |Associated morphology (attribute)|
125495003 |Myelin sheath alteration (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587932024) - 1003375005 -> 389080008 (363698007) View

363698007 |Finding site (attribute)|
389080008 |White matter structure of brain and spinal cord (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15587933025) - 1003375005 -> 4720007 (116676008) View

116676008 |Associated morphology (attribute)|
4720007 |Dystrophy (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13185368025) - 1003375005 -> 396338004 (116680003) View

116680003 |Is a (attribute)|
396338004 |Metachromatic leucodystrophy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13185369022) - 1003375005 -> 68390005 (42752001) View

42752001 |Due to (attribute)|
68390005 |Sphingolipid activator protein 1 deficiency (disorder)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1153623003 View

1153623003
Disorder of nerve due to metabolic disease (disorder)
Metabolic neuropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

87536007 View

87536007
Central nervous system complication (disorder)
Central nervous system complication
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

396338004 View

396338004
Metachromatic leucodystrophy (disorder)
Mld
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (f396bc19-b73a-5a14-89d5-f7bef4e159ad) 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)|
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