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

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