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254280007: fenotype van Turner-syndroom met karyotype met partiële deletie van X-chromosoom (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 sex chromosome\...

\Sex chromosome abnormality - female phenotype\Turner syndrome\Turner's phenotype, partial X deletion karyotype

\Anomaly of chromosome X\Turner syndrome\Turner's phenotype, partial X deletion karyotype

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Turner syndrome\Turner's phenotype, partial X deletion karyotype

\Anomaly of chromosome X\Turner syndrome\Turner's phenotype, partial X deletion karyotype

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
Turner's phenotype, partial X deletion karyotype	Is a	Turner syndrome	true	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Occurrence	Congenital	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Finding site	Testis structure	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Finding site	Ovarian structure	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some
Turner's phenotype, partial X deletion karyotype	Occurrence	Congenital	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Occurrence	Congenital	true	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378514015	Turner's phenotype, partial X deletion karyotype	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645150016	Turner's phenotype, partial X deletion karyotype (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838081017	Turner phenotype, partial X deletion karyotype	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11491321000146114	fenotype van Turner-syndroom met karyotype met partiële deletie van X-chromosoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11491331000146111	fenotype van Turner-syndroom met karyotype met partiële deletie van X-chromosoom (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11491341000146115	fenotype van syndroom van Turner met karyotype met partiële deletie van X-chromosoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)