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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
12q15q21.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 21 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Paternal 14q32.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Maternal 15q11q13 deletion Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of short arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of long arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
6q16 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 6
Proximal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 21 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of chromosome 15 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
10q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Non-distal monosomy 10q (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 1
2q23.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p partial monosomy 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 2
1p31p32 microdeletion syndrome 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 1
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q21.1 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q44 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q41q42 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q41q42 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q13.3 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q13.3 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 22q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 20q syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 1q syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q12 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q32 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 14q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2

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