FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

49024004: syndroom van partiële trisomie 4p (aandoening)

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

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy 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
4p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
4p partial trisomy syndrome	Is a	Anomaly of chromosome pair 4	false	Inferred relationship	Some
4p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
4p partial trisomy syndrome	Finding site	Chromosome pair 4	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Finding site	Chromosome pair 4	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
4p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Finding site	Chromosome pair 4	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Is a	Partial trisomy of chromosome 4 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4p16.3 microduplication syndrome (disorder)	Is a	True	4p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
81675017	4p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
81676016	Trisomy 4p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
81677013	Trisomy for short arm of chromosome 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786657013	4p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7963941000146116	syndroom van partiële trisomie 4p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7963951000146118	syndroom van partiële trisomie 4p (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7963961000146115	partiële trisomie van chromosoom 4p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8723691000146111	partiële trisomie van korte arm van chromosoom 4	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12337201000146116	trisomie 4p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13081651000146113	Zeldzame chromosoomafwijking van chromosoom 4 die leidt tot verstandelijke en lichamelijke beperkingen; zo kan er sprake zijn van een groeiachterstand, een psychomotorische achterstand, schedel- en aangezichtsafwijkingen, afwijkingen aan het skelet, nieren, hart, oog en/of geslachtsdelen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)