897543009: Distal trisomy 1p (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)\Distal trisomy 1p

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1 (disorder)\Distal trisomy 1p

\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)\Distal trisomy 1p
\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)\Distal trisomy 1p
\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)\Distal trisomy 1p
\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)\Distal trisomy 1p

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 1p	Is a	Autosomal duplication (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 1p	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 1p	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 1p	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 1p	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal trisomy 1p	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal trisomy 1p	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal trisomy 1p	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal trisomy 1p	Is a	Partial trisomy of short arm of chromosome 1 (disorder)	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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Id	Description	Lang	Type	Status	Case?	Module
4034282011	Distal trisomy 1p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034283018	Distal trisomy 1p (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034282011	Distal trisomy 1p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4034283018	Distal trisomy 1p (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6087351000241117	trisomie distale 1p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087361000241119	trisomie distale du chromosome 1p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087371000241110	trisomie distale 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
6087351000241117	trisomie distale 1p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087361000241119	trisomie distale du chromosome 1p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6087371000241110	trisomie distale 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