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51500006: trisomie 18 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Complete trisomy 18 syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome

\Developmental disorder\Congenital malformation\Complete trisomy 18 syndrome

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
Complete trisomy 18 syndrome	Is a	Anomaly of chromosome pair 18	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Complete trisomy 18 syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Complete trisomy 18 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Complete trisomy 18 syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
Complete trisomy 18 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 18 - meiotic nondisjunction	Is a	True	Complete trisomy 18 syndrome	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Is a	True	Complete trisomy 18 syndrome	Inferred relationship	Some
Edward's syndrome NOS	Is a	False	Complete trisomy 18 syndrome	Inferred relationship	Some
Fetus with complete trisomy 18 syndrome (disorder)	Is a	False	Complete trisomy 18 syndrome	Inferred relationship	Some
Family history of trisomy 18 (situation)	Associated finding	True	Complete trisomy 18 syndrome	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
85775018	Complete trisomy 18 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
85776017	Edwards syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
789405015	Complete trisomy 18 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
351131000146114	syndroom van Edwards	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10665851000146119	Edwards-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10760891000146113	trisomie 18	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10760901000146114	trisomie 18 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13081741000146115	Zeldzame chromosoomafwijking die leidt tot verstandelijke en lichamelijke beperkingen en vaak tot een vroege dood in het eerste levensjaar; de oorzaak is een extra chromosoom 18.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)