32247007: Sex chromosome (cell structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\...

\Sex chromosome structure\Sex chromosome

\Chromosome\Sex chromosome

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

2618181000005113 Kønskromosom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	del af	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
partiel trisomi 8p-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Komplet trisomi 10-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete monosomy 21 (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel trisomi 1q-syndrom	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
An autosomal anomaly with characteristics of 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	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 with characteristics of 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 are reported in some cases.	Finding site	False	Sex chromosome	Inferred relationship	Some
An autosomal anomaly with characteristics of 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
partiel trisomi 16p-syndrom	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
kønskromosommosaicisme, ikke nærmere specificeret	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
Downs syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome	Inferred relationship	Some
Edwards syndrom, ikke nærmere specificeret	Finding site	False	Sex chromosome	Inferred relationship	Some
Pataus syndrom, ikke nærmere specificeret	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-pletter og ringkromosom 11	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	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 (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
kønskromosommosaicisme, ikke nærmere specificeret	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 (disorder)	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 (disorder)	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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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
2618181000005113	Kønskromosom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)