FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

21111006: trisomie 13 (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
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
342201000146118 syndroom van Patau nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
342211000146116 syndroom van Patau (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10671531000146117 Patau-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10761001000146116 trisomie 13 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10761011000146119 trisomie 13 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13080411000146118 Zeldzame chromosoomafwijking die leidt tot verstandelijke en lichamelijke beperkingen en vaak tot een vroege dood kort na de geboorte of in het eerste levensjaar; de oorzaak is een extra chromosoom 13. 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 13 syndrome Is a Anomaly of chromosome pair 13 false Inferred relationship Some
Complete trisomy 13 syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology Trisomy false Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Sex chromosome false Inferred relationship Some
Complete trisomy 13 syndrome Occurrence Congenital false Inferred relationship Some
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Is a 13q partial trisomy syndrome false Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
Complete trisomy 13 syndrome Is a Anomaly of chromosome pair 13 true Inferred relationship Some
Complete trisomy 13 syndrome Is a Trisomy and partial trisomy of autosome true Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
Complete trisomy 13 syndrome Associated morphology Trisomy true Inferred relationship Some 2
Complete trisomy 13 syndrome Occurrence Congenital true Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site Chromosome pair 13 true Inferred relationship Some 1
Complete trisomy 13 syndrome Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 13, meiotic nondisjunction Is a True Complete trisomy 13 syndrome Inferred relationship Some
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Is a True Complete trisomy 13 syndrome Inferred relationship Some
Patau's syndrome NOS Is a False Complete trisomy 13 syndrome Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) Is a False Complete trisomy 13 syndrome Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated with True Complete trisomy 13 syndrome Inferred relationship Some 2
Fetus with complete trisomy 13 syndrome (disorder) Is a False Complete trisomy 13 syndrome Inferred relationship Some
Family history of trisomy 13 (situation) Associated finding True Complete trisomy 13 syndrome Inferred relationship Some 1

This concept is not in any reference sets

Back to Start