254268004: Partial trisomy 13 in Patau's syndrome (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 13\Partial trisomy 13 in Patau's syndrome (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy 13 in Patau's syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy 13 in Patau's syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Is a	Anomaly of chromosome pair 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Finding site	Chromosome pair 13	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy 13 in Patau's syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy 13 in Patau's syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder)	Finding site	Chromosome pair 13	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy 13 in Patau's syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy 13 in Patau's syndrome (disorder)	Finding site	Chromosome pair 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy 13 in Patau's syndrome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
378500015	Partial trisomy 13 in Patau's syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378501016	Trisomy 13 - translocation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645136014	Partial trisomy 13 in Patau's syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2838921016	Partial trisomy 13 in Patau syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378500015	Partial trisomy 13 in Patau's syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378501016	Trisomy 13 - translocation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378501016	Trisomy 13 - translocation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645136014	Partial trisomy 13 in Patau's syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2838921016	Partial trisomy 13 in Patau syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5083261000241115	trisomie 13 partielle dans le syndrome de Patau	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5083261000241115	trisomie 13 partielle dans le syndrome de Patau	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module