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70156005: Anomaly of chromosome pair 21 (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
116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 21 Is a Anomaly of sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 21 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Anomaly of chromosome pair 21 Finding site Chromosome pair 21 false Inferred relationship Some 1
Anomaly of chromosome pair 21 Finding site Sex chromosome false Inferred relationship Some
Anomaly of chromosome pair 21 Occurrence Congenital false Inferred relationship Some
Anomaly of chromosome pair 21 Is a Anomaly of chromosome pair true Inferred relationship Some
Anomaly of chromosome pair 21 Associated morphology Congenital anomaly false Inferred relationship Some 1
Anomaly of chromosome pair 21 Associated morphology Congenital anomaly false Inferred relationship Some
Anomaly of chromosome pair 21 Finding site Chromosome pair 21 false Inferred relationship Some 1
Anomaly of chromosome pair 21 Occurrence Congenital true Inferred relationship Some 1
Anomaly of chromosome pair 21 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Anomaly of chromosome pair 21 Finding site Chromosome pair 21 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial trisomy (disorder) Is a False Anomaly of chromosome pair 21 Inferred relationship Some
Partial trisomy 21 in Down's syndrome Is a False Anomaly of chromosome pair 21 Inferred relationship Some
21q partial monosomy syndrome Is a False Anomaly of chromosome pair 21 Inferred relationship Some
Ring chromosome 21 syndrome Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Complete trisomy 21 syndrome Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Complete monosomy 21 (disorder) Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Translocation Down syndrome (disorder) Is a False Anomaly of chromosome pair 21 Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism Is a False Anomaly of chromosome pair 21 Inferred relationship Some
Deletion of part of chromosome 21 (disorder) Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Partial trisomy of chromosome 21 Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Tetrasomy 21 (disorder) Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Paternal uniparental disomy of chromosome 21 (disorder) Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Maternal uniparental disomy of chromosome 21 Is a True Anomaly of chromosome pair 21 Inferred relationship Some
Distal duplication of chromosome 21 Is a False Anomaly of chromosome pair 21 Inferred relationship Some

This concept is not in any reference sets

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