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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT model component module (core metadata concept)

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)

2698 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 Inferred relationship Some
Members languageDialectCode typeId value
11q22.2q22.3 microdeletion syndrome en Attribution Inserm Orphanet
12q14 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
14q11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
14q32 duplication syndrome en Attribution Inserm Orphanet
15q11q13 microduplication syndrome (disorder) en Attribution Inserm Orphanet
16p12.1p12.3 triplication syndrome (disorder) en Attribution Inserm Orphanet
16p13.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
17q21.31 microduplication syndrome (disorder) en Attribution Inserm Orphanet
17q24.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
19p13.3 microduplication syndrome (disorder) en Attribution Inserm Orphanet
1p35.2 microdeletion syndrome en Attribution Inserm Orphanet
1q41q42 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease en Attribution Inserm Orphanet
20q11.2 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
22q11.2 deletion syndrome (disorder) en Attribution Inserm Orphanet
2q31.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
3-methylglutaconic aciduria type 8 en Attribution Inserm Orphanet
3-methylglutaconic aciduria type 9 en Attribution Inserm Orphanet
3p25.3 deletion syndrome (disorder) en Attribution Inserm Orphanet
3q29 microdeletion 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
4H leukodystrophy (disorder) en Attribution Inserm Orphanet
4q25 proximal deletion syndrome en Attribution Inserm Orphanet
8p inverted duplication deletion syndrome (disorder) en Attribution Inserm Orphanet
8p23.1 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q21.11 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
8q24.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
9q21.13 microdeletion syndrome en Attribution Inserm Orphanet
9q33.3q34.11 microdeletion syndrome en Attribution Inserm Orphanet
AH amyloidosis (disorder) en Attribution Inserm Orphanet
AKT2-related familial partial lipodystrophy en Attribution Inserm Orphanet
Ablepharon macrostomia syndrome (disorder) en Attribution Inserm Orphanet
Absence deformity of leg and congenital cataract syndrome (disorder) en Attribution Inserm Orphanet
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Attribution Inserm Orphanet
Accessory anterior naris (disorder) en Attribution Inserm Orphanet
Acetazolamide responsive myotonia (disorder) en Attribution Inserm Orphanet
Achalasia microcephaly syndrome (disorder) en Attribution Inserm Orphanet
Acral self-healing collodion baby (disorder) en Attribution Inserm Orphanet
Acrocallosal syndrome (disorder) en Attribution Inserm Orphanet
Acrocardiofacial syndrome (disorder) en Attribution Inserm Orphanet
Acromelic frontonasal dysplasia (disorder) en Attribution Inserm Orphanet
Acromesomelic dysplasia Maroteaux type (disorder) en Attribution Inserm Orphanet
Acute fatty liver of pregnancy (disorder) en Attribution Inserm Orphanet
Acute generalized exanthematous pustulosis (disorder) en Attribution Inserm Orphanet
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Acute bilirubin encephalopathy en Attribution Inserm Orphanet
Acute macular neuroretinopathy (disorder) en Attribution Inserm Orphanet
Acute motor axonal neuropathy (disorder) en Attribution Inserm Orphanet
Acute motor sensory axonal Guillain-Barré syndrome (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with 11q23 abnormality (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with BCR-ABL1 en Attribution Inserm Orphanet
Acute occlusion of peripheral artery due to thrombosis (disorder) en Attribution Inserm Orphanet
Acute panmyelosis with myelofibrosis en Attribution Inserm Orphanet
Acute radiation syndrome (disorder) en Attribution Inserm Orphanet
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) en Attribution Inserm Orphanet
Acute right ventricular failure following incision of heart (disorder) en Attribution Inserm Orphanet
Acute tricyclic antidepressant poisoning en Attribution Inserm Orphanet
Acute undifferentiated leukemia (disorder) en Attribution Inserm Orphanet
Adenovirus infection in immunocompromised person (disorder) en Attribution Inserm Orphanet
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) en Attribution Inserm Orphanet
Adult heart tumor (disorder) en Attribution Inserm Orphanet
Adult hepatocellular carcinoma en Attribution Inserm Orphanet
Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia (disorder) en Attribution Inserm Orphanet
Adult-onset overlap myositis en Attribution Inserm Orphanet
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) en Attribution Inserm Orphanet
Cerebellum agenesis with hydrocephaly en Attribution Inserm Orphanet
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Attribution Inserm Orphanet
Agenesis of scrotum (disorder) en Attribution Inserm Orphanet
Aggressive systemic mastocytosis (disorder) en Attribution Inserm Orphanet
Alexander disease type II en Attribution Inserm Orphanet
Alkaline phosphatase intestinal gene related inflammatory bowel disease (disorder) en Attribution Inserm Orphanet
Alkuraya Kucinskas syndrome en Attribution Inserm Orphanet
Alopecia and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Alpha thalassemia X-linked intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Ameloonychohypohidrotic syndrome (disorder) en Attribution Inserm Orphanet
American Joint Committee on Cancer R0 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer R1 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer R2 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer RX (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer allowable value en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM0 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM0(i+) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a(0) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1a(1) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b(0) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1b(1) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c(0) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c(1) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1c1 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
cM1c2 (AJCC) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d(0) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cM1d(1) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0 (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0(i+) (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging
American Joint Committee on Cancer cN0a (qualifier value) en Attribution American College of Surgeons, Chicago, Illinois: https://www.facs.org/quality-programs/cancer/ajcc/cancer-staging

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