710019006: mozaïcisme 45,X of andere cellijn met afwijkend geslachtschromosoom (aandoening)

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

\Laboratory test finding (finding)\Genetic finding\Genetic mosaic\Mosaic Turner syndrome (disorder)\Mosaicism 45, X or other cell line with abnormal sex chromosome

\Procedure related finding\Evaluation finding\Genetic finding\Genetic mosaic\Mosaic Turner syndrome (disorder)\Mosaicism 45, X or other cell line with abnormal sex chromosome

\Disease\Disorder of foetus and/or newborn\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 or other cell line with abnormal sex chromosome
\Disease\Disorder of foetus and/or newborn\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 or other cell line with abnormal sex chromosome
\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 or other cell line with abnormal sex chromosome
\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 or other cell line with abnormal sex chromosome

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

3042496013 Mosaicism 45, X or other cell line with abnormal sex chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3042704016 Mosaicism 45, X or other cell line with abnormal sex chromosome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8628151000146113 mozaïcisme 45,X of andere cellijn met afwijkend geslachtschromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8628161000146111 mozaïcisme 45,X of andere cellijn met afwijkend geslachtschromosoom (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8628221000146112 mozaïcisme 45,X of andere cellijn met abnormaal geslachtschromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaicism 45, X or other cell line with abnormal sex chromosome	Is a	Mosaic Turner syndrome (disorder)	true	Inferred relationship	Some
Mosaicism 45, X or other cell line with abnormal sex chromosome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaicism 45, X or other cell line with abnormal sex chromosome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
Mosaicism 45, X or other cell line with abnormal sex chromosome	Finding site	Sex chromosome X	true	Inferred relationship	Some	1
Mosaicism 45, X or other cell line with abnormal sex chromosome	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets