FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

302960008: mozaïcisme 45,X-46,XX (aandoening)

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

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

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

\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; 46, XX
\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; 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

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

Descriptions:

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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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

Back to Start

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
8628311000146111	mozaïcisme 45,X-46,XX (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8628321000146118	mozaïcisme 45,X-46,XX	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8628331000146116	45,X/46,XX-mozaïcisme	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)