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699254009: Microdeletion of chromosome 15q13.3 (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
2983307014 15q13.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983429014 15q13.3 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983673017 Microdeletion of chromosome 15q13.3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3015079019 Microdeletion of chromosome 15q13.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5995751000241117 monosomie 15q13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5995761000241119 syndrome de microdélétion 15q13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5995771000241110 del(15)(q13.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428701001000119 Mikrodeletionssyndrom 15q13.3 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
15q13.3 microdeletion Is a Anomaly of chromosome pair 15 false Inferred relationship Some
15q13.3 microdeletion Occurrence Congenital false Inferred relationship Some
15q13.3 microdeletion Associated morphology anomalie congénitale false Inferred relationship Some
15q13.3 microdeletion Associated morphology Deletion of long arm false Inferred relationship Some 2
15q13.3 microdeletion Occurrence Congenital true Inferred relationship Some 1
15q13.3 microdeletion Finding site Chromosome pair 15 false Inferred relationship Some 1
15q13.3 microdeletion Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
15q13.3 microdeletion Is a Partial deletion of long arm of chromosome 15 (disorder) true Inferred relationship Some
15q13.3 microdeletion Is a Congenital malformation true Inferred relationship Some
15q13.3 microdeletion Finding site Long arm of chromosome true Inferred relationship Some 1
15q13.3 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
15q13.3 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
15q13.3 microdeletion Occurrence Congenital true Inferred relationship Some 2
15q13.3 microdeletion Finding site Chromosome pair 15 true Inferred relationship Some 2
15q13.3 microdeletion Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
15q13.3 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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