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403759001: Autosomal chromosomal disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
1771685010 Autosomal chromosomal disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1782769019 Autosomal chromosomal disorder en Synonym Active Entire term case insensitive SNOMED CT core module

239 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal chromosomal disorder Is a Congenital disorder due to abnormality of chromosome number OR structure false Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Occurrence Congenital false Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Autosomal chromosomal disorder Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Autosomal chromosomal disorder Is a Chromosomal disorder true Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Finding site Chromosome structure false Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Finding site Chromosome structure true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal duplication Is a True Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Autosomal aneuploidy Is a True Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Autosomal translocation Is a True Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 20 Is a False Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Paternal uniparental disomy of chromosome 20 Is a False Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Uniparental disomy Is a False Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Tetrasomy 5p mosaicism Is a False Autosomal chromosomal disorder Inferred relationship Existential restriction modifier
Tetrasomy 15q Is a False Autosomal chromosomal disorder Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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