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Terminology chevron_right Concepts chevron_right 773415005

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773415005
The component that hold information about this concept.
Contiguous abcd1 dxs1357e deletion syndrome (disorder)
Hội chứng xóa abcd1 dxs1357e liền kề
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

Contiguous abcd1 dxs1357e deletion syndrome (disorder)

SCTID: 773415005, Primitive, Active


773415005|Contiguous abcd1 dxs1357e deletion syndrome (disorder)|
  • vi Hội chứng xóa abcd1 dxs1357e liền kề
  • en Cadds - contiguous abcd1 dxs1357e deletion syndrome
  • en Contiguous abcd1 dxs1357e deletion syndrome
  • en Contiguous abcd1 dxs1357e deletion syndrome (disorder)
  • en Zellweger-like contiguous gene deletion syndrome

773415005 |Contiguous abcd1 dxs1357e deletion syndrome (disorder)|

<<< 42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| +
    363080007 |Digestive system hereditary disorder (disorder)| +
    128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    235903001 |Metabolic and genetic disorder affecting the liver (disorder)| +
    238066006 |Loss of single peroxisomal function (disorder)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| :
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 10200004 |Liver structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

453481000003112 - hội chứng xóa ABCD1 DXS1357E liền kề (vi) View

453481000003112
vi
Synonym (core metadata concept)
hội chứng xóa ABCD1 DXS1357E liền kề
900000000000448009 |Entire term case insensitive (core metadata concept)|
None
True

3723468014 - CADDS - contiguous ABCD1 DXS1357E deletion syndrome (en) View

3723468014
en
Synonym (core metadata concept)
CADDS - contiguous ABCD1 DXS1357E deletion syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3723464011 - Contiguous ABCD1 DXS1357E deletion syndrome (en) View

3723464011
en
Synonym (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3723463017 - Contiguous ABCD1 DXS1357E deletion syndrome (disorder) (en) View

3723463017
en
Fully specified name (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3723466013 - Zellweger-like contiguous gene deletion syndrome (en) View

3723466013
en
Synonym (core metadata concept)
Zellweger-like contiguous gene deletion syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (15880898022) - 773415005 -> 42357009 (116680003) View

116680003 |Is a (attribute)|
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599221026) - 773415005 -> 128430005 (116680003) View

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

Relationship (14000411024) - 773415005 -> 1162976004 (116680003) View

116680003 |Is a (attribute)|
1162976004 |X-linked recessive hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599214026) - 773415005 -> 10200004 (363698007) View

363698007 |Finding site (attribute)|
10200004 |Liver structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599215025) - 773415005 -> 363080007 (116680003) View

116680003 |Is a (attribute)|
363080007 |Digestive system hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599216029) - 773415005 -> 25087005 (363698007) View

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

Relationship (10599217022) - 773415005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599218028) - 773415005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599219020) - 773415005 -> 128190004 (116680003) View

116680003 |Is a (attribute)|
128190004 |Inherited metabolic disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599220025) - 773415005 -> 235903001 (116680003) View

116680003 |Is a (attribute)|
235903001 |Metabolic and genetic disorder affecting the liver (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599222022) - 773415005 -> 238066006 (116680003) View

116680003 |Is a (attribute)|
238066006 |Loss of single peroxisomal function (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
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

1162976004 View

1162976004
X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

42357009 View

42357009
Disorder of digestive system specific to fetus or newborn (disorder)
Perinatal digestive system disorders
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

235903001 View

235903001
Metabolic and genetic disorder affecting the liver (disorder)
Rối loạn chuyển hóa và di truyền ảnh hưởng đến gan
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

238066006 View

238066006
Loss of single peroxisomal function (disorder)
Loss of single peroxisomal function
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363080007 View

363080007
Digestive system hereditary disorder (disorder)
Digestive system hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (3c46b85e-7cca-59da-9c7f-193962131e44) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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)|
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