32299009: Anomaly of chromosome pair 2 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2

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

53956010 Anomaly of chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
53957018 Anomaly of chromosome pair 2, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
763565016 Anomaly of chromosome pair 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
900601000172112 anomalie du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
995921000172116 anomalie van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 2	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 2	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q31.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2p15p16.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2p21 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q23.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q24 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q32q33 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
Deletion of part of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Partial trisomy of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Mosaic trisomy 2 syndrome	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Ring chromosome 2 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Maternal uniparental disomy of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Overgrowth syndrome with 2q37 translocation	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some

This concept is not in any reference sets