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205684007: Turner's phenotype, karyotype normal (disorder)

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

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Turner syndrome\Turner's phenotype, karyotype normal

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

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Turner syndrome\Turner's phenotype, karyotype normal

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

315435019 Turner's phenotype, karyotype normal en Synonym Active Entire term case sensitive SNOMED CT core module

591086013 Turner's phenotype, karyotype normal (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2838267014 Turner phenotype, karyotype normal en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Turner's phenotype, karyotype normal	Is a	Turner syndrome	true	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Finding site	Testis structure	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Finding site	Ovarian structure	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Associated morphology	Chromosomal morphology	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Associated morphology	Chromosomal morphology	false	Inferred relationship	Existential restriction modifier
Turner's phenotype, karyotype normal	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Turner's phenotype, karyotype normal	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Associated morphology	Chromosomal morphology	true	Inferred relationship	Existential restriction modifier	2
Turner's phenotype, karyotype normal	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	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
315435019	Turner's phenotype, karyotype normal	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
591086013	Turner's phenotype, karyotype normal (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2838267014	Turner phenotype, karyotype normal	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module