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716456000: 3q29 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401321012 A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3306036018 3q29 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3306037010 3q29 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3306038017 3q subtelomere deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3306039013 Monosomy 3q29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
930351000172111 syndrome de microdélétion 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937601000172115 del(3)(q29) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410801001000117 Mikrodeletionssyndrom 3q29 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
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Anomaly of chromosome pair 3 false Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Deletion of part of autosome false Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Associated morphology Deletion of long arm false Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Occurrence Congenital true Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site Chromosome pair 3 false Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Occurrence Congenital false Inferred relationship Some 3
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site Chromosome pair 3 false Inferred relationship Some 3
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Deletion of part of long arm of chromosome 3 (disorder) true Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Developmental hereditary disorder true Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Is a Multiple system malformation syndrome true Inferred relationship Some
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site Long arm of chromosome true Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Occurrence Congenital true Inferred relationship Some 1
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site Chromosome pair 3 true Inferred relationship Some 1
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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