32107005: Anomaly of chromosome pair 17 (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 17 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (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

53647017 Anomaly of chromosome pair 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

763352014 Anomaly of chromosome pair 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

53647017 Anomaly of chromosome pair 17 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

53647017 Anomaly of chromosome pair 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

763352014 Anomaly of chromosome pair 17 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

763352014 Anomaly of chromosome pair 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

937001000172114 anomalie du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

937001000172114 anomalie du chromosome 17 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 17 (disorder)	Is a	Anomaly of sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Finding site	Chromosome pair 17 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 17 (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 17 (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder)	Finding site	Chromosome pair 17 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 17 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 17 (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 17 (disorder)	Finding site	Chromosome pair 17 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 17	Is a	False	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Koolen De Vries syndrome (disorder)	Is a	True	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 17	Is a	True	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 17 (disorder)	Is a	True	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic trisomy 17 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 17 syndrome	Is a	True	Anomaly of chromosome pair 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets