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
Sex chromosome Y	Is a	True	Sex chromosome	Inferred relationship	Some
Sex chromosome X	Is a	True	Sex chromosome	Inferred relationship	Some
13q partial trisomy syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 21- meiotic nondisjunction	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 21- mitotic nondisjunction mosaicism	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 13, meiotic nondisjunction	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 18 - meiotic nondisjunction	Finding site	False	Sex chromosome	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	False	Sex chromosome	Inferred relationship	Some
21q partial distal trisomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
21q partial trisomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
8q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	Finding site	False	Sex chromosome	Inferred relationship	Some	2
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.	Finding site	False	Sex chromosome	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Sex chromosome abnormality - male phenotype	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Male with structurally abnormal sex chromosome	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Male with sex chromosome mosaicism	Finding site	False	Sex chromosome	Inferred relationship	Some	1
Gynandromorphism syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some	1
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics.	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 3	Finding site	False	Sex chromosome	Inferred relationship	Some
12p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
20q partial trisomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
21q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
10q partial monosomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 15	Finding site	False	Sex chromosome	Inferred relationship	Some
4p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 13	Finding site	False	Sex chromosome	Inferred relationship	Some
8p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
22q partial monosomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 13 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Komplet trisomi 14-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
9q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.	Finding site	False	Sex chromosome	Inferred relationship	Some
7p partial monosomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Finding site	False	Sex chromosome	Inferred relationship	Some
11p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 10	Finding site	False	Sex chromosome	Inferred relationship	Some
13q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
8q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
1q partial monosomy	Finding site	False	Sex chromosome	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel monosomi 12p-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 2	Finding site	False	Sex chromosome	Inferred relationship	Some
7q partial trisomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
Sex phenotype-karyotype dissociation syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some	1
1p partial monosomy	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel monosomi 16q-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 7	Finding site	False	Sex chromosome	Inferred relationship	Some
4q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 12	Finding site	False	Sex chromosome	Inferred relationship	Some
12q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 21 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
18p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
18q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
11q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
9q partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel trisomi 16q-syndrom	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 failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	False	Sex chromosome	Inferred relationship	Some
11q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
10p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
4p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 9 (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 18 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
17p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 20 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 16 (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
13p partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
2p partial trisomy syndrome (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
18p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 5	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 18	Finding site	False	Sex chromosome	Inferred relationship	Some
2q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
10p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies.	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 11	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel monosomi 9p-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel monosomi 15q-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Williams syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
18q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 8 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 21	Finding site	False	Sex chromosome	Inferred relationship	Some
5p partial monosomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
partiel trisomi 15q-syndrom	Finding site	False	Sex chromosome	Inferred relationship	Some
Anomaly of chromosome pair 22	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 22 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
10q partial trisomy syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some
5p partial trisomy	Finding site	False	Sex chromosome	Inferred relationship	Some
Partial tetrasomy of chromosome 9 (disorder)	Finding site	False	Sex chromosome	Inferred relationship	Some
Complete trisomy 9 syndrome	Finding site	False	Sex chromosome	Inferred relationship	Some

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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)