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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
Proximal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 1
10q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
Non-distal monosomy 10q Associated morphology True Partial monosomy Inferred relationship Some 3
Distal monosomy 10q syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
2q23.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy Inferred relationship Some 2
1p partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
1p36 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
1p31p32 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
1p21.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 2
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 2
1q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 2
1q21.1 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 1
1q44 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 2
22q partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
22q13.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
22q13.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal 22q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
22q11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
22q11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Paternal 20q13.2q13.3 microdeletion syndrome 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 1
20q13.33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 20q Associated morphology False Partial monosomy Inferred relationship Some 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
20p12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Some 1
20p12.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 1q syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 1
14q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
14q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
14q32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 14q syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Paternal 14q32.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 1
Partial deletion of short arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 2
5p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
5q14.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
5q14.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion 5q35 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 2
5q22.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 2
Deletion of part of autosome Associated morphology True Partial monosomy Inferred relationship Some 1
22q11 partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 1
Proximal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
22q11 partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 Associated morphology True Partial monosomy Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 Associated morphology True Partial monosomy Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Chromosome Xp11.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
16p12.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
16p13.11 microdeletion syndrome 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 1
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 2
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Choroideraemia with deafness and obesity syndrome Associated morphology True Partial monosomy Inferred relationship Some 6
Choroideraemia with deafness and obesity syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 7p syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7p12-p14 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7p21.1 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 2
Partial chromosome Y deletion Associated morphology True Partial monosomy Inferred relationship Some 1
3q29 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
3q29 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
3q27.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
Deletion of part of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 2
3q13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
3q13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus Associated morphology True Partial monosomy Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 2
Proximal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 2
Distal monosomy 6p Associated morphology True Partial monosomy Inferred relationship Some 1
6p22 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
6p22 microdeletion syndrome 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 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 17q Associated morphology True Partial monosomy Inferred relationship Some 1

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Reference Sets

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