FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Turner's phenotype, karyotype normal 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 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
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
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
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 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 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 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
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
Klinefelter's syndrome, XXYY 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 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
Fetal Turner syndrome 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
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
A male with two or more X chromosomes. 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 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
Fetal Turner syndrome Finding site True Sex chromosome X Inferred relationship Some 1
Turner's phenotype, karyotype normal 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 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 was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Finding site True Sex chromosome X Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Finding site True Sex chromosome X Inferred relationship Some 1
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Finding site False Sex chromosome X Inferred relationship Some 1
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Finding site True Sex chromosome X Inferred relationship Some 2
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Finding site False Sex chromosome X Inferred relationship Some 3
Xq28-Duplikationssyndrom, proximales Finding site False Sex chromosome X Inferred relationship Some 2
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Finding site False Sex chromosome X Inferred relationship Some 5
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Finding site False Sex chromosome X Inferred relationship Some 1
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Finding site True Sex chromosome X Inferred relationship Some 4

Start Previous Page 3 of 4 End

Reference Sets

GB English

US English

Back to Start