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51500006: trisomie 18 (aandoening)

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
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)
351141000146118 syndroom van Edwards (aandoening) nl Fully specified name Inactive 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)

2 descendants. Search Descendants:

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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