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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
Distal monosomy 14q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Paternal 14q32.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of short arm of chromosome 5 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 1
5q31.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q14.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q14.3 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 2
Deletion of part of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q22.2 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of autosome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q11 partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal 16p11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q11 partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal 16p11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p12.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p13.11 microdeletion syndrome (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 1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 7p syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p12-p14 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p21.1 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial chromosome Y deletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q29 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q27.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 3 (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 1
6p22 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
6p22 microdeletion syndrome (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 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 17q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q12 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q11 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Non-distal monosomy 12q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q15 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 15q 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 1
15q13.3 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q13.3 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q24 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q24 microdeletion Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16q24.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16q24.3 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 2
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q23.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2q31.1 microdeletion syndrome (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 2
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p13.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2

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