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72837006: Sex chromosome X (cell structure)

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

0 descendants.

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 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X 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. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. 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
Mosaicism 45, X / other cell line with abnormal sex 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
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 Finding site False Sex chromosome X Inferred relationship Some 1
fraxa Finding site False Sex chromosome X Inferred relationship Some 1
fraxe 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 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 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
Turner's phenotype, mosaicism 45, X; 46, XX or 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
Klinefelter's syndrome NOS 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
Ovarian dwarfism NEC Finding site False Sex chromosome X Inferred relationship Some 1
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Turner's phenotype, other variant karyotypes Finding site False Sex chromosome X Inferred relationship Some 1
Turner's syndrome NOS 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
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Finding site False Sex chromosome X Inferred relationship Some 2
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 2
Ovarian dwarfism NEC 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
Turner's syndrome NOS 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
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X 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. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Finding site False Sex chromosome X Inferred relationship Some 1
Turner's phenotype, other variant karyotypes 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
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, mosaicism 45, X; 46, XX or 45, X; 46, XY 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 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
Ovarian dwarfism NEC Finding site False Sex chromosome X Inferred relationship Some 1
Ovarian dwarfism NEC Finding site False Sex chromosome X Inferred relationship Some 2
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 2
Turner's phenotype, other variant karyotypes Finding site False Sex chromosome X Inferred relationship Some 1
Turner's phenotype, other variant karyotypes Finding site False Sex chromosome X Inferred relationship Some 2
Turner's syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Turner's syndrome NOS 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
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X 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. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Finding site False Sex chromosome X Inferred relationship Some 2
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X 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. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. 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
Mosaicism 45, X / other cell line with abnormal sex chromosome 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
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY 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 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
Ovarian dwarfism NEC Finding site False Sex chromosome X Inferred relationship Some 1
Ovarian dwarfism NEC Finding site False Sex chromosome X Inferred relationship Some 2
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 2
Bonnevie-Ullrich syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Turner's phenotype, other variant karyotypes Finding site False Sex chromosome X Inferred relationship Some 1
Turner's phenotype, other variant karyotypes Finding site False Sex chromosome X Inferred relationship Some 2
Turner's syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Turner's syndrome NOS 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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