72837006: structuur van geslachtschromosoom X (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\...

\Sex chromosome structure\Sex chromosome\Sex chromosome X

\Chromosome\Sex chromosome\Sex chromosome X

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
Sex chromosome X	Is a	Sex chromosome	true	Inferred relationship	Some
Sex chromosome X	Part of	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Turner's phenotype, karyotype normal (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, karyotype normal (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	3
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Four X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Four X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X / other cell line with abnormal sex chromosome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X / other cell line with abnormal sex chromosome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
[X]Other male with 46,XX karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XX males	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome NOS	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXXY syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Fragile X chromosome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Anomaly of chromosome X	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXY syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXA	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Trisomy X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Penta X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome - male with more than two X chromosomes	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism - lines with various numbers of X chromosomes	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXE (aandoening)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Trisomy X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype, karyotype normal (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXXY syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XX males	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Penta X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism - lines with various numbers of X chromosomes	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome XXXY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Anomaly of chromosome X	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXA	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
XXXY syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Fragile X chromosome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism 45, X / other cell line with abnormal sex chromosome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Four X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome - male with more than two X chromosomes	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXE (aandoening)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XY/XXY mosaic	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Fetus with Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	3
Four X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Trisomy X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter's syndrome XXXY	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter's syndrome XXXXY	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter's syndrome, XY/XXY mosaic	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Karyotype 46, X with abnormal sex chromosome except iso (Xq)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Fetus with Turner syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype, karyotype normal (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
XXXXY syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
XX males	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Penta X syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Karyotype 46, X iso (Xq)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, partial X deletion karyotype	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Mosaicism - lines with various numbers of X chromosomes	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Anomaly of chromosome X	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
FRAXA	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXY syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Fragile X chromosome	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
FRAXE (aandoening)	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Monosomy X	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Mosaicism 45, X or other cell line with abnormal sex chromosome	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
FRAXF syndrome (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
FRAXE intellectual disability syndrome (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Chromosome Xq27.3q28 duplication syndrome (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	2
Chromosome Xp11.3 microdeletion syndrome (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	3
Xq28-duplicatiesyndroom	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	5
Microduplication Xp11.22p11.23 syndrome (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Finding site	True	Sex chromosome X	Inferred relationship	Some	4

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
120982015	Sex chromosome X	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
813158017	Sex chromosome X (body structure)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1204482016	Sex chromosome X (cell structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1329771000146112	structuur van geslachtschromosoom X	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329781000146114	X-chromosoom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329791000146111	structuur van geslachtschromosoom X (celstructuur)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1329801000146110	geslachtschromosoom X	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1931551000146117	structuur van X-chromosoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10201251000146119	Geslachtschromosoom dat bij de vrouw in elke gewone lichaamscel tweemaal aanwezig is en bij de man in elke gewone lichaamscel eenmaal.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)