FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

254281006: Turner's phenotype - ring chromosome 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 - ring chromosome karyotype

\Anomaly of chromosome X\Turner syndrome\Turner's phenotype - ring chromosome 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 - ring chromosome karyotype

\Anomaly of chromosome X\Turner syndrome\Turner's phenotype - ring chromosome 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 - ring chromosome karyotype	Is a	Turner syndrome	true	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Finding site	Testis structure	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Occurrence	Congenital	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Finding site	Ovarian structure	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some
Turner's phenotype - ring chromosome karyotype	Occurrence	Congenital	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Occurrence	Congenital	true	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Turner's phenotype - ring chromosome 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
378515019	Turner's phenotype - ring chromosome karyotype	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645152012	Turner's phenotype - ring chromosome karyotype (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838922011	Turner phenotype - ring chromosome karyotype	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5983741000172114	phénotype de Turner-caryotype avec chromosome en anneau	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4653071000172119	fenotype van syndroom van Turner met ringchromosoom-karyotype	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4653081000172116	fenotype van Turner-syndroom met ringchromosoom-karyotype	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)