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9839007: Anomaly of chromosome pair 20 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
17180013 Anomaly of chromosome pair 20 en Synonym Active Entire term case insensitive SNOMED CT core module
843165019 Anomaly of chromosome pair 20 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anomaly of chromosome pair 20 Is a Anomaly of sex chromosome false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 20 Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Occurrence Congenital false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Finding site Sex chromosome false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 20 Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 20 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 20 Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier 1
Anomaly of chromosome pair 20 Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
20p partial trisomy syndrome Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
20q partial trisomy Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Ring chromosome 20 syndrome Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Complete trisomy 20 syndrome Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Posterior polymorphous corneal dystrophy Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 20 Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Paternal uniparental disomy of chromosome 20 Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
20p12.3 microdeletion syndrome Is a False Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Deletion of part of chromosome 20 Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Partial trisomy of chromosome 20 Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier
Mosaic trisomy 20 syndrome Is a True Anomaly of chromosome pair 20 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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