37535007: Anomaly of chromosome pair 12 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12

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

62616016 Anomaly of chromosome pair 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769413013 Anomaly of chromosome pair 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

871971000172119 anomalie du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

883251000172114 anomalie van chromosoom 12 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 12	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 12	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
monosomie partielle 12p	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
12q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Tetrasomy 12p syndrome (disorder)	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
Ulnar mammary syndrome	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Deletion of part of chromosome 12 (disorder)	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
Partial trisomy of chromosome 12	Is a	False	Anomaly of chromosome pair 12	Inferred relationship	Some
Trisomy 12	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some
Ring chromosome 12 syndrome	Is a	True	Anomaly of chromosome pair 12	Inferred relationship	Some

This concept is not in any reference sets