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371169004: Partial monosomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1209870015 Partial monosomy en Synonym Active Entire term case insensitive SNOMED CT core module

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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 14q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Paternal 14q32.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of short arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
5p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
5q31.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
5q14.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
5q14.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion 5q35 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Medial deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of autosome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
22q11 partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
22q11 partial monosomy syndrome Associated morphology False Partial monosomy Inferred relationship Existential restriction modifier 2
Atypical Norrie disease due to monosomy Xp11.3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Atypical Norrie disease due to monosomy Xp11.3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Chromosome Xp11.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Chromosome Xp11.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Chromosome Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Chromosome Xp22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
16p12.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
16p11.2p12.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
16p13.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Choroideremia with deafness and obesity syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 6
Choroideremia with deafness and obesity syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal monosomy 7p syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
7p12-p14 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
7p21.1 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of short arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Partial chromosome Y deletion Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
3q29 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
3q29 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
3q27.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Deletion of part of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
3q13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
3q13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Blepharophimosis epicanthus inversus ptosis syndrome plus Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 4
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal monosomy 6p Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
6p22 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
6p22 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
17q23.1q23.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
17q23.1q23.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal monosomy 17q Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
17q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
17q11 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of short arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
12q14 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Non-distal monosomy 12q Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
12q15 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Partial deletion of long arm of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Partial deletion of long arm of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal monosomy 15q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
15q14 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Microdeletion of chromosome 15q13.3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Microdeletion of chromosome 15q13.3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Microdeletion of chromosome 15q24 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Microdeletion of chromosome 15q24 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of part of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
16q24.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
16q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Chromosome 16p11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q24 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q24 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2q31.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q33.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q32q33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2q32q33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome without cystinuria Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2p15p16.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2

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