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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
Distal monosomy 17q Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 1
17q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
17q11 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 2
12q14 microdeletion syndrome 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 1
Non-distal monosomy 12q Associated morphology True Partial monosomy Inferred relationship Some 2
12q15 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 15q Associated morphology True Partial monosomy Inferred relationship Some 2
15q14 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Microdeletion of chromosome 15q13.3 Associated morphology True Partial monosomy Inferred relationship Some 1
Microdeletion of chromosome 15q13.3 Associated morphology True Partial monosomy Inferred relationship Some 2
15q24 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 1
15q24 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 2
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 2
16q24.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
16q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2q23.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2q24 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2q24 microdeletion syndrome 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 1
2q31.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 2
2q33.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2q32q33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2q32q33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria Associated morphology True Partial monosomy Inferred relationship Some 1
2p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
2p15p16.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2p15p16.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
2p21 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
2p21 microdeletion syndrome 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 1
13q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Monosomy 13q14 syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Monosomy 13q34 Associated morphology True Partial monosomy Inferred relationship Some 1
13q12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 2
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
17q24.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
17q24.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
9q21.13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
11q22.2q22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
20q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
20q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
4q25 proximal deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
1q partial monosomy Associated morphology False Partial monosomy Inferred relationship Some 1
11q partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 1
1q partial monosomy Associated morphology False Partial monosomy Inferred relationship Some
11q partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some
10p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
12p partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 1
1p partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
3p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
21q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
10q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
1q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
4p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
9p partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 2
18q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
15q partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7p partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
1p36 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
4q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
22q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
18p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
16q partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 1
9q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
5p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
13q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
11q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
8p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
9q22.3 deletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 2
Jacobsen syndrome Associated morphology False Partial monosomy Inferred relationship Some 2

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