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45201007: Chromosome pair 17 (cell structure)

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

Descriptions:

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
1203235017 Chromosome pair 17 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
75370019 Chromosome pair 17 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203235017 Chromosome pair 17 (cell structure) en Fully specified name Active 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 17 (cell structure) Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 17 (cell structure) partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 17 (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q partial trisomy syndrome Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q partial trisomy syndrome Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 17 (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q partial trisomy syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 17 Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q21.31 microduplication syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Koolen De Vries syndrome (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of long arm of chromosome 17 Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 17 Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1q23.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1q23.2 microdeletion syndrome (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
17p13.3 microduplication syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 17q (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 17q (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 17 Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q12 microdeletion syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q12 microdeletion syndrome Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 17 Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 17 Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
17p11.2 microduplication syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic trisomy 17 syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.3 microdeletion syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.3 microdeletion syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 17 syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 17q Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 17p13.1 microdeletion syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 17p13.1 microdeletion syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Koolen De Vries syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 17 syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q23.1-q23.2 duplication syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q24-qter duplication syndrome Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 17 (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 17 (disorder) Finding site False Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
17q24.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 17 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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