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205630009: Deletion of long arm of chromosome 13 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315362011 Deletion of long arm of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591026010 Deletion of long arm of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
315362011 Deletion of long arm of chromosome 13 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
315362011 Deletion of long arm of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591026010 Deletion of long arm of chromosome 13 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
591026010 Deletion of long arm of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4885861000241112 délétion du bras long du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4885861000241112 délétion du bras long du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm of chromosome 13 (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Finding site Chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Is a Deletion of part of chromosome 13 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 13 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Finding site Chromosome pair 13 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 13 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial monosomy syndrome Is a True Deletion of long arm of chromosome 13 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 13q syndrome Is a True Deletion of long arm of chromosome 13 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 13q14 syndrome (disorder) Is a True Deletion of long arm of chromosome 13 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 13q34 syndrome Is a True Deletion of long arm of chromosome 13 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of 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. Is a True Deletion of long arm of chromosome 13 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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