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302960008: Mosaicism 45, X; 46, XX (disorder)

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

\Evaluation finding\Genetic finding\Genetic mosaic\Mosaic Turner syndrome (disorder)\Mosaicism 45, X; 46, XX

\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome (disorder)\Mosaicism 45, X; 46, XX
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome (disorder)\Mosaicism 45, X; 46, XX
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome (disorder)\Mosaicism 45, X; 46, XX
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome (disorder)\Mosaicism 45, X; 46, XX

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

Descriptions:

Id Description Lang Type Status Case? Module

444999018 Mosaicism 45, X; 46, XX en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

699144016 Mosaicism 45, X; 46, XX (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4713801000052112 mosaikism 45,X; 46,XX sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaicism 45, X; 46, XX	Is a	Turner syndrome	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Occurrence	Congenital	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Finding site	Testis structure	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Finding site	Ovarian structure	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Associated morphology	Chromosomal morphology	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Occurrence	Congenital	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Is a	Mosaic Turner syndrome (disorder)	true	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Occurrence	Congenital	true	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	Sex chromosome X	true	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sex chromosome mosaicism (disorder)	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some
Mosaic XO/XY	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some
Mosaic XO/XX	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some
Mosaic XY/XXY	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some
Mosaic including XXXXY	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some
Sex chromosome mosaicism NOS	Associated morphology	False	Mosaicism 45, X; 46, XX	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
444999018	Mosaicism 45, X; 46, XX	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
699144016	Mosaicism 45, X; 46, XX (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4713801000052112	mosaikism 45,X; 46,XX	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)