Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 773418007

Production
add
773418007
The component that hold information about this concept.
Xylosyltransferase 1 congenital disorder of glycosylation (disorder)
Xylt1-cdg
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

Xylosyltransferase 1 congenital disorder of glycosylation (disorder)

SCTID: 773418007, Primitive, Active


773418007|Xylosyltransferase 1 congenital disorder of glycosylation (disorder)|
  • en Xylosyltransferase 1 congenital disorder of glycosylation
  • en Xylosyltransferase 1 congenital disorder of glycosylation (disorder)
  • en Xylt1-cdg
  • en Xylt1-cdg - xylosyltransferase 1 congenital disorder of glycosylation

773418007 |Xylosyltransferase 1 congenital disorder of glycosylation (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| +
    238049009 |Carbohydrate-deficient glycoprotein syndrome (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3723475010 - Xylosyltransferase 1 congenital disorder of glycosylation (en) View

3723475010
en
Synonym (core metadata concept)
Xylosyltransferase 1 congenital disorder of glycosylation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3723477019 - Xylosyltransferase 1 congenital disorder of glycosylation (disorder) (en) View

3723477019
en
Fully specified name (core metadata concept)
Xylosyltransferase 1 congenital disorder of glycosylation (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3723479016 - XYLT1-CDG (en) View

3723479016
en
Synonym (core metadata concept)
XYLT1-CDG
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3723476011 - XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation (en) View

3723476011
en
Synonym (core metadata concept)
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (10599224023) - 773418007 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316648020) - 773418007 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094782024) - 773418007 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094783025) - 773418007 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096147026) - 773418007 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096148020) - 773418007 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069981029) - 773418007 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599223028) - 773418007 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599225024) - 773418007 -> 85995004 (116680003) View

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

Relationship (10599226020) - 773418007 -> 65094009 (116680003) View

116680003 |Is a (attribute)|
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599227027) - 773418007 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599228021) - 773418007 -> 238049009 (116680003) View

116680003 |Is a (attribute)|
238049009 |Carbohydrate-deficient glycoprotein syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10599229029) - 773418007 -> 255399007 (246454002) View

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

Relationship (10599230023) - 773418007 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

65094009 View

65094009
Multiple malformation syndrome with facial defects as major feature (disorder)
Multiple malformation syndrome with facial defects as major feature
900000000000074008 |Necessary but not sufficient concept 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

238049009 View

238049009
Carbohydrate-deficient glycoprotein syndrome (disorder)
Congenital disorder of glycosylation
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (18414185-cb24-5f9d-8488-b6c1c8558ce0) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E77.8
TRUE
ALWAYS E77.8 | 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)|
esc