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205728002: Duplication of chromosome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
315494017 Duplication of chromosome en Synonym Active Entire term case insensitive SNOMED CT core module
591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

236 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of chromosome Is a Congenital disorder due to abnormality of chromosome number OR structure false Inferred relationship Existential restriction modifier
Duplication of chromosome Occurrence Congenital false Inferred relationship Existential restriction modifier
Duplication of chromosome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Duplication of chromosome Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Duplication of chromosome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Duplication of chromosome Is a Chromosomal disorder true Inferred relationship Existential restriction modifier
Duplication of chromosome Finding site Chromosome structure false Inferred relationship Existential restriction modifier
Duplication of chromosome Finding site Chromosome structure true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal duplication Is a True Duplication of chromosome Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a False Duplication of chromosome Inferred relationship Existential restriction modifier
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a False Duplication of chromosome Inferred relationship Existential restriction modifier
Chromosome 3q29 duplication syndrome Is a False Duplication of chromosome Inferred relationship Existential restriction modifier
8p inverted duplication deletion syndrome Is a True Duplication of chromosome Inferred relationship Existential restriction modifier
Chromosome Xq27.3q28 duplication syndrome Is a False Duplication of chromosome Inferred relationship Existential restriction modifier
Xp22.13p22.2 duplication syndrome Is a True Duplication of chromosome Inferred relationship Existential restriction modifier
Duplication of chromosome 17p11.2 Is a True Duplication of chromosome Inferred relationship Existential restriction modifier
Methyl-cytosine-phosphate-guanine-binding protein-2 duplication syndrome (disorder) Is a False Duplication of chromosome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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