74769007: Anomaly of chromosome pair 1 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1

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

124173018 Anomaly of chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
124174012 Anomaly of chromosome pair 1, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
994641000172118 anomalie du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
949021000172113 anomalie van chromosoom 1 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 1	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 1	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 1	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 1	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 1	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1q partial monosomy	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1p partial monosomy	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Ring chromosome 1 syndrome	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
1q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1q21.1 microdeletion	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
1q41q42 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Distal monosomy 1q syndrome	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Partial trisomy of chromosome 1	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Deletion of part of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Paternal uniparental disomy of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Maternal uniparental disomy of chromosome 1 (disorder)	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Mosaic trisomy 1 syndrome	Is a	True	Anomaly of chromosome pair 1	Inferred relationship	Some
Distal trisomy 1p	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Distal trisomy 1q (disorder)	Is a	False	Anomaly of chromosome pair 1	Inferred relationship	Some
Frontotemporal dementia due to TARDBP mutation	Due to	True	Anomaly of chromosome pair 1	Inferred relationship	Some	3

This concept is not in any reference sets