57361003: Anomaly of chromosome pair 5 (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 5 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5 (disorder)

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

95401013 Anomaly of chromosome pair 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795975015 Anomaly of chromosome pair 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

95401013 Anomaly of chromosome pair 5 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

95401013 Anomaly of chromosome pair 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795975015 Anomaly of chromosome pair 5 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

795975015 Anomaly of chromosome pair 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

898951000172112 anomalie du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

898951000172112 anomalie du chromosome 5 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 5 (disorder)	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Finding site	Chromosome pair 5	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 5 (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 5 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder)	Finding site	Chromosome pair 5	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 5 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 5 (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 5 (disorder)	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
5p partial monosomy syndrome (disorder)	Is a	False	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
5p partial trisomy	Is a	False	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	Is a	False	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
5q35 microduplication syndrome (disorder)	Is a	False	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion 5q35 (disorder)	Is a	False	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 5 (disorder)	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 5 (disorder)	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic trisomy 5 syndrome	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 5 syndrome	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 5p syndrome (disorder)	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 5	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrasomy 5p mosaicism (disorder)	Is a	True	Anomaly of chromosome pair 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets