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72837006: Sex chromosome X (cell structure)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1204482016 Sex chromosome X (cell structure) en Fully specified name Active Initial character case insensitive SNOMED CT core
120982015 Sex chromosome X en Synonym Active Initial character case insensitive SNOMED CT core
813158017 Sex chromosome X (body structure) en Fully specified name Inactive Initial character case insensitive 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 Part of Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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
Intellectual disability, seizures, macrocephaly, obesity syndrome Finding site True Sex chromosome X Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Klinefelter's syndrome NOS Finding site False Sex chromosome X Inferred relationship Some 1
Distal Xq28 microduplication syndrome Finding site True 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
Paternal uniparental disomy of chromosome X Finding site True Sex chromosome X Inferred relationship Some 1
Maternal uniparental disomy of chromosome X Finding site True Sex chromosome X Inferred relationship Some 1
Xp22.13p22.2 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Fragile X syndrome Finding site True Sex chromosome X Inferred relationship Some 1
X-linked acrogigantism due to Xq26 microduplication Finding site True Sex chromosome X Inferred relationship Some 1
Choroideraemia with deafness and obesity syndrome Finding site False Sex chromosome X Inferred relationship Some 5
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 1
49,XXXYY syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Choroideraemia with deafness and obesity syndrome Finding site True Sex chromosome X Inferred relationship Some 6
Chromosome Xq27.3q28 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Xq12-q13.3 duplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Carrier of fragile X chromosome Finding site True Sex chromosome X Inferred relationship Some 3
Xq25 microduplication syndrome Finding site True Sex chromosome X Inferred relationship Some 2
Symptomatic form of fragile X syndrome in female carrier Finding site True Sex chromosome X Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome Finding site True Sex chromosome X Inferred relationship Some 4
Klinefelter's syndrome, XXY 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
Four X syndrome 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
Four X syndrome Finding site False Sex chromosome X Inferred relationship Some 2
Four X syndrome 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
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
Karyotype 46, X 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
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
Turner syndrome Finding site False Sex chromosome X Inferred relationship Some 1
Mixed gonadal dysgenesis Finding site False Sex chromosome X Inferred relationship Some 4

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Reference Sets

Body structure foundation reference set

Australian dialect reference set

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