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Terminology chevron_right Concepts chevron_right 784343003

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784343003
The component that hold information about this concept.
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)
Autosomal recessive spastic ataxia type 3
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

Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)

SCTID: 784343003, Primitive, Active


784343003|Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)|
  • en Arsal - autosomal recessive spastic ataxia with leucoencephalopathy
  • en Autosomal recessive spastic ataxia with leucoencephalopathy
  • en Arsal - autosomal recessive spastic ataxia with leukoencephalopathy
  • en Autosomal recessive spastic ataxia type 3
  • en Autosomal recessive spastic ataxia with leukoencephalopathy
  • en Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)
  • en Spax3 - autosomal recessive spastic ataxia type 3

784343003 |Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)|

<<< 763597000 |Hereditary ataxia (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    22811006 |Leukoencephalopathy (disorder)| +
    85102008 |Cerebellar ataxia (disorder)| :
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 68523003 |Cerebral white matter structure (body structure)| }
Active

3789568013 - ARSAL - autosomal recessive spastic ataxia with leucoencephalopathy (en) View

3789568013
en
Synonym (core metadata concept)
ARSAL - autosomal recessive spastic ataxia with leucoencephalopathy
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3789567015 - Autosomal recessive spastic ataxia with leucoencephalopathy (en) View

3789567015
en
Synonym (core metadata concept)
Autosomal recessive spastic ataxia with leucoencephalopathy
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3763695011 - ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy (en) View

3763695011
en
Synonym (core metadata concept)
ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3763697015 - Autosomal recessive spastic ataxia type 3 (en) View

3763697015
en
Synonym (core metadata concept)
Autosomal recessive spastic ataxia type 3
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3763698013 - Autosomal recessive spastic ataxia with leukoencephalopathy (en) View

3763698013
en
Synonym (core metadata concept)
Autosomal recessive spastic ataxia with leukoencephalopathy
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3763696012 - Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) (en) View

3763696012
en
Fully specified name (core metadata concept)
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3763699017 - SPAX3 - autosomal recessive spastic ataxia type 3 (en) View

3763699017
en
Synonym (core metadata concept)
SPAX3 - autosomal recessive spastic ataxia type 3
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (11373506023) - 784343003 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11373502020) - 784343003 -> 763597000 (116680003) View

116680003 |Is a (attribute)|
763597000 |Hereditary ataxia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11373503026) - 784343003 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11373504021) - 784343003 -> 22811006 (116680003) View

116680003 |Is a (attribute)|
22811006 |Leukoencephalopathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11373505022) - 784343003 -> 85102008 (116680003) View

116680003 |Is a (attribute)|
85102008 |Cerebellar ataxia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11573078020) - 784343003 -> 68523003 (363698007) View

363698007 |Finding site (attribute)|
68523003 |Cerebral white matter structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11573079028) - 784343003 -> 113305005 (363698007) View

363698007 |Finding site (attribute)|
113305005 |Cerebellar structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

22811006 View

22811006
Leukoencephalopathy (disorder)
Leucoencephalopathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85102008 View

85102008
Cerebellar ataxia (disorder)
Cerebellar ataxia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

763597000 View

763597000
Hereditary ataxia (disorder)
Hereditary ataxia
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

ExtendedMap object (00a42a88-d87f-5160-9fe8-f6be33f29dfa) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G11.4
TRUE
ALWAYS G11.4 | 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)|

ExtendedMap object (0db67975-9883-5d36-8756-758af841f89c) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E88.8
TRUE
ALWAYS E88.8 | 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)|

ExtendedMap object (c4070f85-bdae-5277-9831-ead271d2009a) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G93.4
TRUE
ALWAYS G93.4
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)|

ExtendedMap object (e701a1d9-4083-5211-9b6d-3b8966c950cf) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G11.4
TRUE
ALWAYS G11.4
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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