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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) Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p21 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
13q partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 13q14 syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Monosomy 13q34 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
13q12.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p35.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q24.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9q21.13 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11q22.2q22.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
4q25 proximal deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1

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