710010005: Mosaic Turner syndrome (disorder)

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

\Procedure related finding\Evaluation finding\Genetic finding\Genetic mosaic (finding)\Mosaic Turner syndrome

\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
\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
\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
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3042516012 Mosaic Turner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3042703010 Mosaic Turner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3042516012 Mosaic Turner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3042703010 Mosaic Turner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5463661000241114 syndrome de Turner en mosaïque fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5463661000241114 syndrome de Turner en mosaïque fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic Turner syndrome	Is a	Turner syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic Turner syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mosaic Turner syndrome	Associated morphology	Chromosomal morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mosaic Turner syndrome	Finding site	Sex chromosome X (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mosaic Turner syndrome	Is a	Genetic mosaic (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic Turner syndrome	Interprets	Genetic test (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mixed gonadal dysgenesis	Is a	False	Mosaic Turner syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaicism 45, X; 46, XX	Is a	True	Mosaic Turner syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaicism 45, X or other cell line with abnormal sex chromosome	Is a	True	Mosaic Turner syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets