FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q21.1 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
1q21.1 microdeletion localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 1
1q21.1 microdeletion Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
1q21.1 microdeletion est un(e) (attribut) Congenital malformation true Inferred relationship Some
1q21.1 microdeletion morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
1q21.1 microdeletion est un(e) (attribut) Anomaly of chromosome pair 1 false Inferred relationship Some
1q21.1 microdeletion survenue (attribut) congénital false Inferred relationship Some
1q21.1 microdeletion morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
1q21.1 microdeletion morphologie associée (attribut) Deletion of long arm false Inferred relationship Some
1q21.1 microdeletion survenue (attribut) congénital true Inferred relationship Some 1
1q21.1 microdeletion morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
1q21.1 microdeletion localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
1q21.1 microdeletion survenue (attribut) congénital true Inferred relationship Some 2
1q21.1 microdeletion localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) true Inferred relationship Some 2
1q21.1 microdeletion est un(e) (attribut) 1q partial monosomy true Inferred relationship Some
1q21.1 microdeletion survenue (attribut) congénital false Inferred relationship Some 3
1q21.1 microdeletion localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 3
1q21.1 microdeletion morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
1q21.1 microdeletion morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start