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19550003: 22q partial monosomy (disorder)

Status: current, 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
4555248013 22q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555249017 22q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2480281000052112 partiellt monosomi 22q-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Some
22q partial monosomy (disorder) Is a Anomaly of chromosome pair 22 false Inferred relationship Some
22q partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Occurrence Congenital false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
22q partial monosomy (disorder) Associated morphology kongenital anomali false Inferred relationship Some 1
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology kongenital anomali false Inferred relationship Some
22q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 1
22q partial monosomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 1
22q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 2
22q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
22q partial monosomy (disorder) Finding site Chromosome pair 22 true Inferred relationship Some 2
22q partial monosomy (disorder) Is a Deletion of part of chromosome 22 (disorder) true Inferred relationship Some
22q partial monosomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
22q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal 22q11.2 microdeletion syndrome (disorder) Is a True 22q partial monosomy (disorder) Inferred relationship Some
22q11.2 deletion syndrome (disorder) Is a True 22q partial monosomy (disorder) Inferred relationship Some
22q13.3 deletion syndrome Is a True 22q partial monosomy (disorder) Inferred relationship Some
partiellt monosomi 22q11-syndrom Is a False 22q partial monosomy (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

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