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36369001: 1p partial monosomy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4555211016 1p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555212011 1p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555213018 Partial deletion of the short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
60698010 1p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
768113011 1p partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
768113011 1p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4555211016 1p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555212011 1p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555213018 Partial deletion of the short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3386831001000118 Chromosom 1p-Deletion, partielle de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4508021000241115 monosomie partielle 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4508021000241115 monosomie partielle 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386831001000118 Chromosom 1p-Deletion, partielle de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1p partial monosomy Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Is a Deletion of part of chromosome 1 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
1p31p32 microdeletion syndrome Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Distal deletion of short arm of chromosome 1 (disorder) Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Medial deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
1p35.2 microdeletion syndrome Is a True 1p partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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