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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
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 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
A rare autosomal anomaly characterized by 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
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. 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 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
Complete trisomy 14 syndrome Finding site False Sex chromosome Inferred relationship Some
9q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Finding site False Sex chromosome Inferred relationship Some
7p partial monosomy (disorder) Finding site False Sex chromosome Inferred relationship Some
Cat eye syndrome (CES) is 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 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
12p partial monosomy syndrome 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
16q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Some
Anomaly of chromosome pair 7 (disorder) 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
16q partial trisomy syndrome 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 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 Finding site False Sex chromosome Inferred relationship Some
13p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Some
2p partial trisomy syndrome 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 (disorder) 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
9p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Some
15q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Some
Williams syndrome (disorder) 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
15q partial trisomy syndrome 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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