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

SNOMED CT Concept\Clinical finding\...

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

\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\Mosaic Turner syndrome\Mosaicism 45, X; 46, XX
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome\Mosaicism 45, X; 46, XX
\Disease\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\Mosaic Turner syndrome\Mosaicism 45, X; 46, XX
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome\Mosaicism 45, X; 46, XX

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

444999018 Mosaicism 45, X; 46, XX en Synonym Active Entire term case sensitive SNOMED CT core module

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

Expanded Value Set

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

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
444999018	Mosaicism 45, X; 46, XX	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
699144016	Mosaicism 45, X; 46, XX (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module