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53392002: Anomaly of chromosome pair 16 (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
88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

29 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 16 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 16 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 16 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 16 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 false Inferred relationship Some 1
Anomaly of chromosome pair 16 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 16 Associated morphology Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 false Inferred relationship Some 1
Anomaly of chromosome pair 16 Associated morphology Congenital anomaly false Inferred relationship Some
Anomaly of chromosome pair 16 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 16 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 16 Finding site Chromosome pair 16 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
16q partial monosomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Some
16q partial trisomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Some
Complete trisomy 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Some
16p partial trisomy syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Is a False Anomaly of chromosome pair 16 Inferred relationship Some
16p11.2p12.2 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 16 Inferred relationship Some
16p13.11 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 16 Inferred relationship Some
Deletion of part of chromosome 16 (disorder) Is a True Anomaly of chromosome pair 16 Inferred relationship Some
Partial trisomy of chromosome 16 Is a True Anomaly of chromosome pair 16 Inferred relationship Some
Ring chromosome 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Some
Mosaic trisomy 16 syndrome Is a True Anomaly of chromosome pair 16 Inferred relationship Some
Maternal uniparental disomy of chromosome 16 (disorder) Is a True Anomaly of chromosome pair 16 Inferred relationship Some
16p12.1p12.3 triplication syndrome (disorder) Is a True Anomaly of chromosome pair 16 Inferred relationship Some
Frontotemporal dementia due to FUS mutation Due to True Anomaly of chromosome pair 16 Inferred relationship Some 3

Reference Sets

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