44710007: Anomaly of chromosome pair 6 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6

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

74584016 Anomaly of chromosome pair 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781869015 Anomaly of chromosome pair 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

74584016 Anomaly of chromosome pair 6 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

74584016 Anomaly of chromosome pair 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781869015 Anomaly of chromosome pair 6 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

781869015 Anomaly of chromosome pair 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

893241000172111 anomalie du chromosome 6 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

893241000172111 anomalie du chromosome 6 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 6	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 6	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 6	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 6	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 6	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
6p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal monosomy 6p (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
6p22 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
6q25 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
6q terminal deletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 6p syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 6 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets