312237004: Chromosome structure (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure

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

Descriptions:

Id Description Lang Type Status Case? Module

455916012 Chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1187856012 Chromosome structure (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome structure	Is a	Subcellular structure	true	Inferred relationship	Some
Chromosome structure	partie de	Cell	false	Inferred relationship	Some
Chromosome structure	partie de	Entire body as a whole	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal aneuploidy (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	2
Balanced autosomal translocation	Finding site	False	Chromosome structure	Inferred relationship	Some
Chromosome inversion in normal individual	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Balanced sex/autosomal rearrangement in abnormal individual	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Autosomal duplication (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable.	Finding site	False	Chromosome structure	Inferred relationship	Some	1
Balanced autosomal translocation	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Autosomal translocation	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Balanced translocation of chromosome (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Balanced autosomal translocation in normal individual (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Tetraploidy (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Ring chromosome	Finding site	True	Chromosome structure	Inferred relationship	Some	1
Fetal chromosomal abnormality (disorder)	Finding site	True	Chromosome structure	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)