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371169004: Partial monosomy (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
1q partial monosomy Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q partial monosomy Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some
11q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some
10p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12p partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3p partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
21q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
10q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
4p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9p partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
18q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
4q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
18p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
13q partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
11q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
8p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9q22.3 deletion syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q31.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8p23.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
1q41q42 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 1q syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
8q21.11 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 10q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 6p (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
12q14 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 4
14q11.2 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of long arm of chromosome 17 Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
19p13.12 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
19q13.11 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p21.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
6p22 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
20p12.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q23.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q24 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q32q33 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q12 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16p11.2p12.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16p13.11 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8p11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
4q21 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
5q14.3 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
6q25 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
6q terminal deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 10p (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q21.1 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q44 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8q22.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 5
16q24.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion 5q35 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 9
8q13 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
3q13 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Chromosome Xp22.3 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 17q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 18 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 19 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of short arm of chromosome 19 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1

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