70156005: Anomaly of chromosome pair 21 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
116518012 Anomaly of chromosome pair 21, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1001041000172116 anomalie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 21	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
21q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
21q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Ring chromosome 21 syndrome	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Complete trisomy 21 syndrome	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Complete monosomy 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Translocation Down syndrome (disorder)	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Trisomy 21- mitotic nondisjunction mosaicism	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some
Deletion of part of chromosome 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Partial trisomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Tetrasomy 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Paternal uniparental disomy of chromosome 21 (disorder)	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Maternal uniparental disomy of chromosome 21	Is a	True	Anomaly of chromosome pair 21	Inferred relationship	Some
Distal duplication of chromosome 21	Is a	False	Anomaly of chromosome pair 21	Inferred relationship	Some

This concept is not in any reference sets