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21111006: Complete trisomy 13 syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
35482019 Complete trisomy 13 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
35483012 Patau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
35484018 D>1< trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
750370014 Complete trisomy 13 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
35482019 Complete trisomy 13 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
35482019 Complete trisomy 13 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
35483012 Patau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
35484018 D>1< trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
750370014 Complete trisomy 13 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
750370014 Complete trisomy 13 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
670041000274116 Vollständige Trisomie 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4457771000241117 trisomie totale 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4457771000241117 trisomie totale 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670041000274116 Vollständige Trisomie 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409941001000119 Trisomie 13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Complete trisomy 13 syndrome (disorder) Is a Anomaly of chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Is a 13q partial trisomy syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 false Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Is a Anomaly of chromosome pair 13 true Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Associated morphology Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 13 syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Finding site Chromosome pair 13 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 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
Trisomy 13, meiotic nondisjunction Is a True Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Is a True Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Patau's syndrome NOS Is a False Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome Is a False Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome Associated with True Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fetus with complete trisomy 13 syndrome Is a False Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of trisomy 13 (situation) Associated finding True Complete trisomy 13 syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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