1003377002: Medial duplication of short arm of chromosome 1 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Medial duplication of short arm of chromosome 1 (disorder)

Status: current, Not 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

4168111016 Medial duplication of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168112011 Medial duplication of short arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168111016 Medial duplication of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168112011 Medial duplication of short arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6367851000241111 duplication médiale du bras court du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367861000241114 duplication médiale 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367851000241111 duplication médiale du bras court du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367861000241114 duplication médiale 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Medial duplication of short arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medial duplication of short arm of chromosome 1 (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medial duplication of short arm of chromosome 1 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Medial duplication of short arm of chromosome 1 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Medial duplication of short arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Medial duplication of short arm of chromosome 1 (disorder)	Is a	Partial trisomy of short arm of chromosome 1 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial duplication of short arm of chromosome 1 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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This concept is not in any reference sets