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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
12q15q21.1 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 1
Distal deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of chromosome 21 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 12 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 1
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Distal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of short arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Paternal 14q32.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Maternal 15q11q13 deletion Associated morphology False Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 4 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of short arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of long arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
6q16 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 6
Proximal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 4 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of chromosome 21 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of short arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 11 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 1
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of short arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of short arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
10q partial monosomy Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
10q22.3q23.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Non-distal monosomy 10q Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
Distal monosomy 10q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2q23.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1p partial monosomy Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Chromosome 1p36 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1p31p32 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1p21.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1q partial monosomy Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1q21.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
1q44 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Proximal deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
22q partial monosomy Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
22q13.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
22q11.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Paternal 20q13.2q13.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of long arm of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
20q13.33 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal monosomy 20q syndrome Associated morphology False Partial monosomy Inferred relationship Existential restriction modifier 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
20p12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 20 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
20p12.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal monosomy 1q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Partial deletion of long arm of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Partial deletion of long arm of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
14q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 3
14q12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
14q32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Distal monosomy 14q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2

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