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Terminology chevron_right Concepts chevron_right 254264002

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254264002
The component that hold information about this concept.
Partial trisomy 21 in down's syndrome (disorder)
Trisomy 21 - translocation
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

Partial trisomy 21 in down's syndrome (disorder)

SCTID: 254264002, Primitive, Active


254264002|Partial trisomy 21 in down's syndrome (disorder)|
  • en Trisomy 21 - translocation
  • en Partial trisomy 21 in down syndrome
  • en Partial trisomy 21 in down's syndrome
  • en Partial trisomy 21 in down's syndrome (disorder)

254264002 |Partial trisomy 21 in down's syndrome (disorder)|

<<< 726361003 |Partial trisomy of chromosome 21 (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

378495018 - Trisomy 21 - translocation (en) View

378495018
en
Synonym (core metadata concept)
Trisomy 21 - translocation
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

2837910011 - Partial trisomy 21 in Down syndrome (en) View

2837910011
en
Synonym (core metadata concept)
Partial trisomy 21 in Down syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

378494019 - Partial trisomy 21 in Down's syndrome (en) View

378494019
en
Synonym (core metadata concept)
Partial trisomy 21 in Down's syndrome
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

645132011 - Partial trisomy 21 in Down's syndrome (disorder) (en) View

645132011
en
Fully specified name (core metadata concept)
Partial trisomy 21 in Down's syndrome (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (74400020) - 254264002 -> 270521004 (116680003) View

116680003 |Is a (attribute)|
270521004 |Trisomy and partial trisomy of autosome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (74401024) - 254264002 -> 70156005 (116680003) View

116680003 |Is a (attribute)|
70156005 |Anomaly of chromosome pair 21 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (5010767020) - 254264002 -> 107673000 (116676008) View

116676008 |Associated morphology (attribute)|
107673000 |Cellular and/or subcellular abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13753994026) - 254264002 -> 726361003 (116680003) View

116680003 |Is a (attribute)|
726361003 |Partial trisomy of chromosome 21 (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13753995025) - 254264002 -> 133849008 (116676008) View

116676008 |Associated morphology (attribute)|
133849008 |Partial trisomy (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (580272020) - 254264002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (3401875021) - 254264002 -> 107656002 (116676008) View

116676008 |Associated morphology (attribute)|
107656002 |Congenital anomaly (morphologic abnormality)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (5008210022) - 254264002 -> 255399007 (246454002) View

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

Relationship (5010768026) - 254264002 -> 43009003 (363698007) View

363698007 |Finding site (attribute)|
43009003 |Chromosome pair 21 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (3401876022) - 254264002 -> 43009003 (363698007) View

363698007 |Finding site (attribute)|
43009003 |Chromosome pair 21 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (580274021) - 254264002 -> 43009003 (363698007) View

363698007 |Finding site (attribute)|
43009003 |Chromosome pair 21 (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (2579179028) - 254264002 -> 107656002 (116676008) View

116676008 |Associated morphology (attribute)|
107656002 |Congenital anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (580271029) - 254264002 -> 41669009 (116676008) View

116676008 |Associated morphology (attribute)|
41669009 |Alteration of chromosome structure (morphologic abnormality)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (580273026) - 254264002 -> 32247007 (363698007) View

363698007 |Finding site (attribute)|
32247007 |Sex chromosome (cell structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

726361003 View

726361003
Partial trisomy of chromosome 21 (disorder)
Duplication of chromosome 21
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (334621df-c68d-59e5-95a7-99ec46e8b1f2) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q90.9
TRUE
ALWAYS Q90.9
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