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32299009: Anomaly of chromosome pair 2 (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
53956010 Anomaly of chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763565016 Anomaly of chromosome pair 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

30 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 2 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 2 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 2 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 2 Finding site Chromosome pair 2 false Inferred relationship Some 1
Anomaly of chromosome pair 2 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 2 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 2 Associated morphology Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome pair 2 Finding site Chromosome pair 2 false Inferred relationship Some 1
Anomaly of chromosome pair 2 Associated morphology Congenital anomaly false Inferred relationship Some
Anomaly of chromosome pair 2 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 2 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 2 Finding site Chromosome pair 2 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
2p partial trisomy syndrome Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2q partial trisomy syndrome Is a False Anomaly of chromosome pair 2 Inferred relationship Some
Chromosome 2q37 deletion syndrome Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2q31.1 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2p15p16.1 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2p21 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2q23.1 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2q24 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
2q32q33 microdeletion syndrome (disorder) Is a False Anomaly of chromosome pair 2 Inferred relationship Some
Deletion of part of chromosome 2 (disorder) Is a True Anomaly of chromosome pair 2 Inferred relationship Some
Partial trisomy of chromosome 2 (disorder) Is a True Anomaly of chromosome pair 2 Inferred relationship Some
Mosaic trisomy 2 syndrome Is a True Anomaly of chromosome pair 2 Inferred relationship Some
Ring chromosome 2 syndrome (disorder) Is a True Anomaly of chromosome pair 2 Inferred relationship Some
Maternal uniparental disomy of chromosome 2 (disorder) Is a True Anomaly of chromosome pair 2 Inferred relationship Some
Overgrowth syndrome with 2q37 translocation Is a True Anomaly of chromosome pair 2 Inferred relationship Some

This concept is not in any reference sets

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