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32247007: Sex chromosome (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
53871010 Sex chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1189742010 Sex chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sex chromosome Is a Sex chromosome structure true Inferred relationship Some
Sex chromosome Is a Chromosome true Inferred relationship Some
Sex chromosome partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Complete trisomy 9 syndrome Finding site False Sex chromosome Inferred relationship Some
Anomaly of chromosome pair 1 Finding site False Sex chromosome Inferred relationship Some
14q partial trisomy (disorder) Finding site False Sex chromosome Inferred relationship Some
19q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
6q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Angelman syndrome Finding site False Sex chromosome Inferred relationship Some
Complete trisomy 16 syndrome Finding site False Sex chromosome Inferred relationship Some
3p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
9p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
8p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Complete trisomy 10 syndrome Finding site False Sex chromosome Inferred relationship Some
Complete monosomy 21 (disorder) Finding site False Sex chromosome Inferred relationship Some
1q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Anomaly of chromosome pair 19 Finding site False Sex chromosome Inferred relationship Some
7q partial monosomy Finding site False Sex chromosome Inferred relationship Some
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Finding site False Sex chromosome Inferred relationship Some
7p partial trisomy (disorder) Finding site False Sex chromosome Inferred relationship Some
14q partial proximal trisomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Some
6p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Anomaly of chromosome pair 4 Finding site False Sex chromosome Inferred relationship Some
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Finding site False Sex chromosome Inferred relationship Some
A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site False Sex chromosome Inferred relationship Some
16p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
4q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Prader-Willi syndrome Finding site False Sex chromosome Inferred relationship Some
3q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
Tetrasomy 12p syndrome (disorder) Finding site False Sex chromosome Inferred relationship Some
Anomaly of sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Anomaly of chromosome pair 20 Finding site False Sex chromosome Inferred relationship Some
XY, female phenotype Finding site False Sex chromosome Inferred relationship Some 1
Additional sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome mosaicism Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XO/XY Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XO/XX Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XY/XXY Finding site False Sex chromosome Inferred relationship Some 1
Mosaic including XXXXY Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome mosaicism NOS Finding site False Sex chromosome Inferred relationship Some 1
[X]Other specified sex chromosome abnormalities, female phenotype Finding site False Sex chromosome Inferred relationship Some 1
[X]Other specified sex chromosome abnormalities, male phenotype Finding site False Sex chromosome Inferred relationship Some 1
[X]Sex chromosome abnormality, male phenotype, unspecified Finding site False Sex chromosome Inferred relationship Some 1
Down's syndrome NOS Finding site False Sex chromosome Inferred relationship Some
Edward's syndrome NOS Finding site False Sex chromosome Inferred relationship Some
Patau's syndrome NOS Finding site False Sex chromosome Inferred relationship Some
Translocation Down syndrome (disorder) Finding site False Sex chromosome Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) Finding site False Sex chromosome Inferred relationship Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Finding site False Sex chromosome Inferred relationship Some
Café-au-lait spots and ring chromosome 11 Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Female with more than three X chromosomes Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 2
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome mosaicism NOS Finding site False Sex chromosome Inferred relationship Some 1
[X]Other specified sex chromosome abnormalities, male phenotype Finding site False Sex chromosome Inferred relationship Some 1
[X]Other specified sex chromosome abnormalities, female phenotype Finding site False Sex chromosome Inferred relationship Some 1
Sex phenotype-karyotype dissociation syndrome Finding site False Sex chromosome Inferred relationship Some 1
XY, female phenotype Finding site False Sex chromosome Inferred relationship Some 1
Male with sex chromosome mosaicism Finding site False Sex chromosome Inferred relationship Some 1
[X]Sex chromosome abnormality, male phenotype, unspecified Finding site False Sex chromosome Inferred relationship Some 1
Male with structurally abnormal sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Female with more than three X chromosomes Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome abnormality - male phenotype Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome abnormality - female phenotype Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XY/XXY Finding site False Sex chromosome Inferred relationship Some 1
Additional sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Mosaic including XXXXY Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome mosaicism Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XO/XX Finding site False Sex chromosome Inferred relationship Some 1
Mosaic XO/XY Finding site False Sex chromosome Inferred relationship Some 1
Anomaly of sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome abnormality - male phenotype Finding site True Sex chromosome Inferred relationship Some 1
Female with more than three X chromosomes Finding site True Sex chromosome Inferred relationship Some 1
Mosaic XO/XY Finding site True Sex chromosome Inferred relationship Some 1
Mosaic including XXXXY Finding site True Sex chromosome Inferred relationship Some 1
Sex chromosome abnormality - female phenotype Finding site True Sex chromosome Inferred relationship Some 1
Gynandromorphism syndrome Finding site True Sex chromosome Inferred relationship Some 1
XY, female phenotype Finding site True Sex chromosome Inferred relationship Some 1
Male with sex chromosome mosaicism Finding site True Sex chromosome Inferred relationship Some 1
Male with structurally abnormal sex chromosome Finding site True Sex chromosome Inferred relationship Some 1
Mosaic XO/XX Finding site True Sex chromosome Inferred relationship Some 1
Sex phenotype-karyotype dissociation syndrome Finding site True Sex chromosome Inferred relationship Some 1
Additional sex chromosome Finding site False Sex chromosome Inferred relationship Some 1
Sex chromosome mosaicism Finding site True Sex chromosome Inferred relationship Some 1
Mosaic XY/XXY Finding site True Sex chromosome Inferred relationship Some 1
Anomaly of sex chromosome Finding site True Sex chromosome Inferred relationship Some 1
Additional sex chromosome Finding site False Sex chromosome Inferred relationship Some 2
Absence of sex chromosome Finding site True Sex chromosome Inferred relationship Some 1
Additional sex chromosome Finding site True Sex chromosome Inferred relationship Some 3
Sex chromosome aneuploidy (disorder) Finding site True Sex chromosome Inferred relationship Some 1

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