FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

45201007: chromosomenpaar 17 (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 17

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 17	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 17	Part of	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of chromosome pair 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	1
17q21.31 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Trisomy 17p (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
Koolen De Vries syndrome (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
Deletion of long arm of chromosome 17	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17q11.2 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q23.1q23.2 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q23.1q23.2 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17p13.3 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Distal monosomy 17q (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal monosomy 17q (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of part of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	3
Partial trisomy of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q12 microdeletion syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q12 microdeletion syndrome	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 17 (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	3
17p11.2 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q12 microduplication syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Mosaic trisomy 17 syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.3 microdeletion syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.3 microdeletion syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Mosaic trisomy 17 syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Distal trisomy 17q	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Distal 17p13.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Distal 17p13.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Koolen De Vries syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Trisomy 17p (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Ring chromosome 17 syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q11 deletion syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
17q11 deletion syndrome (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q24-qter duplication syndrome	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 17 (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 17 (disorder)	Finding site	False	Chromosome pair 17	Inferred relationship	Some	2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2
17q24.2 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 17	Inferred relationship	Some	2

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
75370019	Chromosome pair 17	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
782415013	Chromosome pair 17 (body structure)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1203235017	Chromosome pair 17 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786251000146112	chromosomenpaar 17	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
886221000146118	chromosomenpaar 17 (celstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)