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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) est un(e) (attribut) Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal deletion of short arm of chromosome 3 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 7 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
10q partial monosomy (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Non-distal monosomy 10q (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 10q syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2q23.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p31p32 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 1p21.3 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q21.1 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q44 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q41q42 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q41q42 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 1 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q partial monosomy (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q13.3 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q13.3 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 22q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q11.2 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q11.2 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 20q morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20p13 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 1q syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q12 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q32 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 14q syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Paternal 14q32.2 microdeletion (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of short arm of chromosome 5 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5p partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q14.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q14.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion 5q35 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q22.2 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of autosome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q11 partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
syndrome de microdélétion 16p11.2 proximale morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
22q11 partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 16p11.2 proximale morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
syndrome de microdélétion 16p13.11 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 7p syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p12-p14 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p21.1 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial chromosome Y deletion (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q29 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q26q27 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q27.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 6p (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
6p22 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
6p22 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 17q23.1q23.2 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 17q23.1q23.2 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 17q (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1

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