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699306003: Chromosome 1p36 deletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983611014 Distal monosomy 1p36 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983665014 Monosomy 1p36 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983669015 Chromosome 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983672010 Chromosome 1p36 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983739016 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983611014 Distal monosomy 1p36 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983611014 Distal monosomy 1p36 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983665014 Monosomy 1p36 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983665014 Monosomy 1p36 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983669015 Chromosome 1p36 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983669015 Chromosome 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983672010 Chromosome 1p36 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983672010 Chromosome 1p36 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983739016 1p36 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983739016 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431941001000113 1p36-Deletionssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5438841000241112 syndrome de délétion 1p36 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5438841000241112 syndrome de délétion 1p36 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431941001000113 1p36-Deletionssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
1p36 deletion syndrome Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Is a Deletion of part of chromosome 1 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Is a 1p partial monosomy true Inferred relationship Existential restriction modifier (core metadata concept)
1p36 deletion syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1p36 deletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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