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312242007: Long arm of chromosome (cell structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
455922015 Long arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1187861014 Long arm of chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Long arm of chromosome Is a Chromosome structure true Inferred relationship Some
Long arm of chromosome Part of Cell structure false Inferred relationship Some
Long arm of chromosome Part of Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
14q24.1q24.3 microdeletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
14q12 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
14q32 deletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 2
14q22q23 microdeletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 4
14q partial proximal trisomy syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
5q14.3 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Deletion 5q35 Finding site True Long arm of chromosome Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
5q22.2 deletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 Finding site True Long arm of chromosome Inferred relationship Some 2
22q11 partial monosomy syndrome Finding site False Long arm of chromosome Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Chromosome Xq27.3q28 duplication syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
MECP2 duplication syndrome Finding site False Long arm of chromosome Inferred relationship Some 3
Distal Xq28 microduplication syndrome Finding site False Long arm of chromosome Inferred relationship Some 2
Chromosome Xq28 trisomy Finding site False Long arm of chromosome Inferred relationship Some 1
7q31 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Xq12-q13.3 duplication syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
3q26q27 microdeletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 2
3q27.3 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Finding site True Long arm of chromosome Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 3 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal monosomy 17q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
17q12 microdeletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
17q11 deletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
12q15q21.1 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
12q14 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Non-distal monosomy 12q Finding site True Long arm of chromosome Inferred relationship Some 2
12q15 deletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal monosomy 15q Finding site True Long arm of chromosome Inferred relationship Some 1
15q14 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
15q13.3 microdeletion Finding site True Long arm of chromosome Inferred relationship Some 1
15q24 microdeletion Finding site True Long arm of chromosome Inferred relationship Some 1
Tetrasomy 15q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
15q13.3 microduplication syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Finding site True Long arm of chromosome Inferred relationship Some 1
16q24.1 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
16q24.3 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Distal trisomy 16q (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Chromosome 2q37 deletion syndrome Finding site True Long arm of chromosome Inferred relationship Some 2
2q23.1 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
2q31.1 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Distal deletion of long arm of chromosome 2 (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 Finding site True Long arm of chromosome Inferred relationship Some 2
Proximal deletion of long arm of chromosome 2 Finding site True Long arm of chromosome Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Monosomy 13q14 syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
Distal monosomy 13q syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
Monosomy 13q34 syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
13q12.3 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
Deletion of long arm of chromosome 13 Finding site True Long arm of chromosome Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
Xq25 microduplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 2
14q32 duplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Finding site True Long arm of chromosome Inferred relationship Some 3
MECP2 duplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1
Distal Xq28 microduplication syndrome Finding site True Long arm of chromosome Inferred relationship Some 1

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