72837006: Sex chromosome X (cell structure)

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:

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

1204482016 Sex chromosome X (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2754651000005116 Kvindeligt kønskromosom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	del af	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Karyotype 46, X 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	1
mosaicisme 45, X/anden cellelinje med abnormt kønskromosom	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
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
Turner's phenotype - ring chromosome karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Female with more than three X chromosomes	Finding site	False	Sex chromosome X	Inferred relationship	Some
Mosaicism - lines with various numbers of X chromosomes (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXA-syndrom	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
FRAXE	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelters syndrom	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
A male with two or more X chromosomes.	Finding site	False	Sex chromosome X	Inferred relationship	Some
Trisomy X syndrome	Finding site	True	Sex chromosome X	Inferred relationship	Some	1
Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXXY syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Penta X syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XX males	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
XXXY syndrome (disorder)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	3
Turner's phenotype, karyotype normal	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY	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
Turner's phenotype, partial X deletion 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
Klinefelters syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
[X]Other variants of Turner's syndrome	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
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners syndrom, ikke nærmere specificeret	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
Klinefelter's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some
[X]Other variants of Turner's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Karyotype 46, X iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, karyotype normal	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
mosaicisme 45, X/anden cellelinje med abnormt kønskromosom	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
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
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
[X]Other variants of Turner's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
[X]Other variants of Turner's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	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	2
Karyotype 46, X iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Karyotype 46, X iso (Xq)	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype, karyotype normal	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turner's phenotype, karyotype normal	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
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	2
Mixed gonadal dysgenesis	Finding site	False	Sex chromosome X	Inferred relationship	Some	3
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
mosaicisme 45, X/anden cellelinje med abnormt kønskromosom	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
mosaicisme 45, X/anden cellelinje med abnormt kønskromosom	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
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	1
Turner's phenotype, partial X deletion karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
[X]Other variants of Turner's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
[X]Other variants of Turner's syndrome	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners syndrom, ikke klassificeret andetsteds	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Bonnevie-Ullrichs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners fænotype, andre variante karyotyper	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turners syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Turners syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	1
Mosaicism 45, X; 46, XX	Finding site	False	Sex chromosome X	Inferred relationship	Some	2
Turner's phenotype - ring chromosome karyotype	Finding site	False	Sex chromosome X	Inferred relationship	Some	1

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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
1204482016	Sex chromosome X (cell structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2754651000005116	Kvindeligt kønskromosom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)