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

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

This concept is not in any reference sets

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