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Terminology chevron_right Concepts chevron_right 448045004

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448045004
The component that hold information about this concept.
Fragile x associated tremor ataxia syndrome (disorder)
Fragile x associated tremor ataxia syndrome
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

Fragile x associated tremor ataxia syndrome (disorder)

SCTID: 448045004, Primitive, Active


448045004|Fragile x associated tremor ataxia syndrome (disorder)|
  • en Fragile x associated tremor ataxia syndrome
  • en Fragile x associated tremor ataxia syndrome (disorder)

448045004 |Fragile x associated tremor ataxia syndrome (disorder)|

<<< 1162984000 |X-linked dominant hereditary disease (disorder)| +
    230226000 |System disorder of the nervous system (disorder)| +
    85102008 |Cerebellar ataxia (disorder)| +
    763597000 |Hereditary ataxia (disorder)| +
    362975008 |Degenerative disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
Active

2900005013 - Fragile X associated tremor ataxia syndrome (en) View

2900005013
en
Synonym (core metadata concept)
Fragile X associated tremor ataxia syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

2898386017 - Fragile X associated tremor ataxia syndrome (disorder) (en) View

2898386017
en
Fully specified name (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (9142111025) - 448045004 -> 128430005 (116680003) View

116680003 |Is a (attribute)|
128430005 |X-linked hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14011020024) - 448045004 -> 1162984000 (116680003) View

116680003 |Is a (attribute)|
1162984000 |X-linked dominant hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9142112021) - 448045004 -> 363235000 (116680003) View

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

Relationship (9142114022) - 448045004 -> 113305005 (363698007) View

363698007 |Finding site (attribute)|
113305005 |Cerebellar structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9142110029) - 448045004 -> 85102008 (116680003) View

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

Relationship (9142113027) - 448045004 -> 763597000 (116680003) View

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

Relationship (3814832027) - 448045004 -> 362975008 (116680003) View

116680003 |Is a (attribute)|
362975008 |Degenerative disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3814833021) - 448045004 -> 230226000 (116680003) View

116680003 |Is a (attribute)|
230226000 |System disorder of the nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3820676027) - 448045004 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3825231024) - 448045004 -> 25087005 (363698007) View

363698007 |Finding site (attribute)|
25087005 |Structure of nervous system (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1162984000 View

1162984000
X-linked dominant hereditary disease (disorder)
X-linked dominant hereditary disease
900000000000074008 |Necessary but not sufficient concept 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

230226000 View

230226000
System disorder of the nervous system (disorder)
System disorder of the nervous system
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

362975008 View

362975008
Degenerative disorder (disorder)
Degenerative disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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