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371169004: Partial monosomy (morphologic abnormality)

Status: current, Primitive. 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 Case insensitive SNOMED CT core
1209870015 Partial monosomy en Synonym Active Case insensitive SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Jacobsen syndrome Associated morphology False Partial monosomy Inferred relationship Some 2
Jacobsen syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
2q31.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8p23.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
1q41q42 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
Distal monosomy 1q syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
3q29 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
8q21.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
Distal monosomy 10q syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 6p Associated morphology True Partial monosomy Inferred relationship Some 3
12q14 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 4
14q11.2 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
Distal monosomy 17q Associated morphology False Partial monosomy Inferred relationship Some 3
17q23.1q23.2 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
19p13.12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
19q13.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
1p21.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
6p22 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
Chromosome Xp11.3 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
20p12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2p15p16.1 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
2p21 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
2q23.1 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
2q24 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
2q32q33 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
14q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
15q14 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
16p11.2p12.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
16p13.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8p11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
4q21 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
5q14.3 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
6q25 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
6q terminal deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
Distal monosomy 10p Associated morphology True Partial monosomy Inferred relationship Some 2
1q21.1 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 2
1q44 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8q22.1 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 5
16q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion 5q35 Associated morphology True Partial monosomy Inferred relationship Some 3
Paternal 20q13.2q13.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Monosomy 9q22.3 syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Hypoparathyroidism, deafness, renal disease syndrome Associated morphology True Partial monosomy Inferred relationship Some 9
8q13 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
3q13 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
Xp22.3 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 3
Distal monosomy 17q Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 4 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 10 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 11 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 19 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of short arm of chromosome 19 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of chromosome 21 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of chromosome 22 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of short arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of long arm of chromosome 19 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 2
20q13.33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
17q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 Associated morphology False Partial monosomy Inferred relationship Some 3
12q15q21.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Associated morphology False Partial monosomy Inferred relationship Some 5
Distal monosomy 7q36 Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 9p Associated morphology True Partial monosomy Inferred relationship Some 2
Distal 17p13.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
9p13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
19p13.13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal chromosome 18q deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal chromosome 18q deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
2q33.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 3p Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 7q36 Associated morphology True Partial monosomy Inferred relationship Some 1

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