55401003: Chromosome pair 13 (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 13

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

92104016 Chromosome pair 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1203692013 Chromosome pair 13 (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 pair 13	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 13	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	Finding site	False	Chromosome pair 13	Inferred relationship	Some	3
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	Finding site	True	Chromosome pair 13	Inferred relationship	Some	2
Distal duplication of chromosome 13 (disorder)	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Distal deletion of chromosome 13 (disorder)	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Medial duplication of chromosome 13 (disorder)	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Medial deletion of chromosome 13	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	Finding site	False	Chromosome pair 13	Inferred relationship	Some	2
Proximal deletion of chromosome 13 (disorder)	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Proximal duplication of chromosome 13 (disorder)	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1
Fetal complete trisomy 13 syndrome	Finding site	True	Chromosome pair 13	Inferred relationship	Some	1

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