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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
53871010 Sex chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
53871010 Sex chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763508017 Sex chromosome (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1189742010 Sex chromosome (cell structure) en Fully specified name Active Only initial character 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 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Sex chromosome Y Is a True Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome X (cell structure) Is a True Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
13q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21- meiotic nondisjunction Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13, meiotic nondisjunction Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 18 - meiotic nondisjunction (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
21q partial distal trisomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
21q partial trisomy Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
8q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 11 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Partial trisomy 21 in Down's syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy 18 in Edward's syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy 13 in Patau's syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex chromosome abnormality - male phenotype Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Male with structurally abnormal sex chromosome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Male with sex chromosome mosaicism Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Gynandromorphism syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 3 (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
12p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
20q partial trisomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
21q partial monosomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
10q partial monosomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 15 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
4p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 13 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
8p partial monosomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
14q partial distal trisomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 13 syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 14 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
9q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
7p partial monosomy Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Cat eye syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
11p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 14 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 10 (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
13q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
12p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 17 (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
7q partial trisomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Sex phenotype-karyotype dissociation syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 7 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
4q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 12 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 21 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
18p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
18q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 6 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
16q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 1 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 8 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
11q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
10p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
17q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
4p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 9 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 18 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 20 syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 16 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
13p partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
2p partial trisomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
18p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 5 (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 18 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome 9 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 11 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
15q partial monosomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 8 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 21 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
5p partial monosomy syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
15q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 22 Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 22 syndrome (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
10q partial trisomy syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
5p partial trisomy Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Partial tetrasomy of chromosome 9 (disorder) Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)
Complete trisomy 9 syndrome Finding site False Sex chromosome Inferred relationship Existential restriction modifier (core metadata concept)

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