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1292992004: Component annotation with string value reference set (foundation metadata concept)

Status: current. Date: 31-Oct 2023

Descriptions:

Id Description Lang Type Status Case? Module
5276957018 Component annotation with string value reference set (foundation metadata concept) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)
5276958011 Component annotation with string value reference set en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT model component module (core metadata concept)

5001 members. Search Members:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Component annotation with string value reference set (foundation metadata concept) Is a Reference set true SNOMED RT Concept SNOMED RT Concept
Members languageDialectCode typeId value
0 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
10q22.3q23.3 microdeletion syndrome en Attribution Inserm Orphanet
10q22.3q23.3 microduplication syndrome (disorder) en Attribution Inserm Orphanet
I:11 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
I:12 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage I:14 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
I:15 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage I:16 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage I:18 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
11q22.2q22.3 microdeletion syndrome en Attribution Inserm Orphanet
12p12.1 microdeletion syndrome en Attribution Inserm Orphanet
12q14 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
12q15q21.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
13q12.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
14q partial distal trisomy syndrome en Attribution Inserm Orphanet
14q11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
14q11.2 microduplication syndrome (disorder) en Attribution Inserm Orphanet
14q12 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
14q24.1q24.3 microdeletion syndrome en Attribution Inserm Orphanet
14q32 duplication syndrome en Attribution Inserm Orphanet
15q overgrowth syndrome en Attribution Inserm Orphanet
15q11q13 microduplication syndrome (disorder) en Attribution Inserm Orphanet
15q14 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
16p11.2p12.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
16p11.2p12.2 microduplication syndrome en Attribution Inserm Orphanet
16p12.1p12.3 triplication syndrome (disorder) en Attribution Inserm Orphanet
16p13.11 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
16p13.11 microduplication syndrome (disorder) en Attribution Inserm Orphanet
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. en Attribution Inserm Orphanet
16q24.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
16q24.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
17p11.2 microduplication syndrome (disorder) en Attribution Inserm Orphanet
17p13.3 microduplication syndrome (disorder) en Attribution Inserm Orphanet
17q11.2 microduplication syndrome (disorder) en Attribution Inserm Orphanet
17q12 microdeletion syndrome en Attribution Inserm Orphanet
17q21.31 microduplication syndrome (disorder) en Attribution Inserm Orphanet
17q23.1q23.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
17q24.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
19p13.12 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
19p13.3 microduplication syndrome (disorder) en Attribution Inserm Orphanet
19q13.11 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
IA2 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
1p21.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
1p31p32 microdeletion syndrome en Attribution Inserm Orphanet
1p35.2 microdeletion syndrome en Attribution Inserm Orphanet
1q21.1 microduplication syndrome (disorder) en Attribution Inserm Orphanet
1q41q42 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
1q44 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2-aminoadipic 2-oxoadipic aciduria (disorder) en Attribution Inserm Orphanet
2-methyl-3-hydroxybutyric aciduria (disorder) en Attribution Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease en Attribution Inserm Orphanet
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) en Attribution Inserm Orphanet
20p partial trisomy syndrome en Attribution Inserm Orphanet
20p12.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
20p13 microdeletion syndrome en Attribution Inserm Orphanet
20q11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
20q11.2 microduplication syndrome en Attribution Inserm Orphanet
20q13.33 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Union for International Cancer Control stage II:1 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage II:10 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
21q22.11q22.12 microdeletion syndrome en Attribution Inserm Orphanet
Union for International Cancer Control stage II:22 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage II:5 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage II:6 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage II:9 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
2p13.2 microdeletion syndrome en Attribution Inserm Orphanet
2p15p16.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2p21 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2p21 microdeletion syndrome without cystinuria (disorder) en Attribution Inserm Orphanet
2q23.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2q23.1 microduplication syndrome (disorder) en Attribution Inserm Orphanet
2q24 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2q31.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2q32q33 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency en Attribution Inserm Orphanet
3-methylglutaconic aciduria type 8 en Attribution Inserm Orphanet
3-methylglutaconic aciduria type 9 en Attribution Inserm Orphanet
III:1 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage III:18 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
III:23 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
3p25.3 deletion syndrome (disorder) en Attribution Inserm Orphanet
3q13 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) en Attribution Inserm Orphanet
3q26 microduplication syndrome en Attribution Inserm Orphanet
3q27.3 microdeletion syndrome en Attribution Inserm Orphanet
3q29 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
IV (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage IV:10 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
IV:2 (UICC) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
Union for International Cancer Control stage IV:23 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) en Attribution Inserm Orphanet
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) en Attribution Inserm Orphanet
46,XX ovarian dysgenesis, short stature syndrome (disorder) en Attribution Inserm Orphanet
46,XX ovotesticular disorder of sex development (disorder) en Attribution Inserm Orphanet
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) en Attribution Inserm Orphanet
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) en Attribution Inserm Orphanet
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome en Attribution Inserm Orphanet
46,XY ovotesticular disorder of sex development en Attribution Inserm Orphanet
46,XY partial gonadal dysgenesis (disorder) en Attribution Inserm Orphanet
48,XYYY syndrome (disorder) en Attribution Inserm Orphanet
Union for International Cancer Control stage IV:9 (qualifier value) en Attribution Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm

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