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254280007: Turner's phenotype, partial X deletion karyotype (disorder)

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

\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

\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

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	kongenital anomali	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	kongenital anomali	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

Back to Start

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
2886381000052113	Turners fenotyp, partiell X-deletionskaryotyp	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)