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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
2p15p16.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2p15p16.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Deletion of part of short arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
13q partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Monosomy 13q14 syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Monosomy 13q34 syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
13q12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
Joint contractures, developmental delay, Pierre Robin syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
9q33.3q34.11 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
16p13.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
17q24.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
17q24.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
9q21.13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
11q22.2q22.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
20q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
20q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 2
8q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1
4q25 proximal deletion syndrome Associated morphology True Partial monosomy Inferred relationship Existential restriction modifier 1

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