FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

25610001: Chromosome pair 20 (cell structure)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
42933017 Chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1187274012 Chromosome pair 20 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7868901000172114 chromosomenpaar 20 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 20 Is a Chromosome true Inferred relationship Some
Chromosome pair 20 Part of Nucleus false Additional relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
20p partial trisomy syndrome Finding site False Chromosome pair 20 Inferred relationship Some 1
20q partial trisomy (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
Ring chromosome 20 syndrome Finding site False Chromosome pair 20 Inferred relationship Some 1
Complete trisomy 20 syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
Anomaly of chromosome pair 20 Finding site False Chromosome pair 20 Inferred relationship Some 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Some 2
Congenital hereditary endothelial dystrophy (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 1 (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
20q partial trisomy (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
20p partial trisomy syndrome Finding site False Chromosome pair 20 Inferred relationship Some 1
Complete trisomy 20 syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Some 2
Anomaly of chromosome pair 20 Finding site False Chromosome pair 20 Inferred relationship Some 1
Ring chromosome 20 syndrome Finding site False Chromosome pair 20 Inferred relationship Some 1
20q partial trisomy (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
Ring chromosome 20 syndrome Finding site True Chromosome pair 20 Inferred relationship Some 1
Anomaly of chromosome pair 20 Finding site True Chromosome pair 20 Inferred relationship Some 1
Polymorphous corneal dystrophy Finding site False Chromosome pair 20 Inferred relationship Some 2
Complete trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 1 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
20p partial trisomy syndrome Finding site True Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
Maternal uniparental disomy of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 2
20p12.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 3
Deletion of part of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
Deletion of part of long arm of chromosome 20 (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
Deletion of part of short arm of chromosome 20 (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 3
Partial trisomy of chromosome 20 (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 2
20q13.33 microdeletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 3
20q11.2 microduplication syndrome Finding site True Chromosome pair 20 Inferred relationship Some 1
Distal trisomy 20q syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Mosaic trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 2
Mosaic trisomy 20 syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20p13 microdeletion syndrome Finding site True Chromosome pair 20 Inferred relationship Some 1
20p13 microdeletion syndrome Finding site False Chromosome pair 20 Inferred relationship Some 2
monosomie distale 20q Finding site False Chromosome pair 20 Inferred relationship Some 2
monosomie distale 20q Finding site False Chromosome pair 20 Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Finding site False Chromosome pair 20 Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 20 Inferred relationship Some 1

Reference Sets

Description inactivation indicator reference set

Back to Start