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699305004: 1q21.1 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983579010 Chromosome 1q21.1 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983615017 1q21.1 contiguous gene deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983705015 1q21.1 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3015049014 Microdeletion of chromosome 1q21.1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555237018 1q21.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555239015 1q21.1 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983579010 Chromosome 1q21.1 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983579010 Chromosome 1q21.1 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983615017 1q21.1 contiguous gene deletion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983615017 1q21.1 contiguous gene deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983618015 Microdeletion of chromosome 1q21.1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983618015 Microdeletion of chromosome 1q21.1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983705015 1q21.1 microdeletion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983705015 1q21.1 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3015049014 Microdeletion of chromosome 1q21.1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3015049014 Microdeletion of chromosome 1q21.1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555237018 1q21.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555239015 1q21.1 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3443531001000113 Mikrodeletionssyndrom 1q21.1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035951000241116 monosomie 1q21.1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035961000241118 del(1)(q21) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035971000241114 syndrome de microdélétion 1q21.1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035951000241116 monosomie 1q21.1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035961000241118 del(1)(q21) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6035971000241114 syndrome de microdélétion 1q21.1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443531001000113 Mikrodeletionssyndrom 1q21.1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q21.1 microdeletion syndrome (disorder) Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Is a 1q partial monosomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
1q21.1 microdeletion syndrome (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 3
1q21.1 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
1q21.1 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
1q21.1 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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