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

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

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

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

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 Only initial character case insensitive (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

Expanded Value Set

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

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

Reference Sets

Description inactivation indicator reference set

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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
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	Only initial character case insensitive (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