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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)

5247 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
German syndrome (disorder) en Attribution Inserm Orphanet
Ghosal hematodiaphyseal dysplasia en Attribution Inserm Orphanet
Giant axonal neuropathy en Attribution Inserm Orphanet
Gillespie syndrome en Attribution Inserm Orphanet
Gingival fibromatosis and hypertrichosis syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis with facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis with progressive deafness syndrome (disorder) en Attribution Inserm Orphanet
Gitelman syndrome en Attribution Inserm Orphanet
Gitelman-like kidney tubulopathy due to mitochondrial deoxyribonucleic acid mutation (disorder) en Attribution Inserm Orphanet
Glaucoma and sleep apnea syndrome (disorder) en Attribution Inserm Orphanet
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) en Attribution Inserm Orphanet
GOLD (Global Initiative for Chronic Obstructive Lung Disease) Classification severity grade 1 mild disease en Attribution Copyright 2024, 2025, Global Initiative for Chronic Obstructive Lung Disease, available from www.goldcopd.org, published in Deer Park, IL, USA.
GOLD (Global Initiative for Chronic Obstructive Lung Disease) Classification severity grade 2 moderate disease en Attribution Copyright 2024, 2025, Global Initiative for Chronic Obstructive Lung Disease, available from www.goldcopd.org, published in Deer Park, IL, USA.
Global Initiative for Chronic Obstructive Lung Disease Classification severity grade 3 severe disease (finding) en Attribution Copyright 2024, 2025, Global Initiative for Chronic Obstructive Lung Disease, available from www.goldcopd.org, published in Deer Park, IL, USA.
GOLD (Global Initiative for Chronic Obstructive Lung Disease) Classification severity grade 4 very severe disease en Attribution Copyright 2024, 2025, Global Initiative for Chronic Obstructive Lung Disease, available from www.goldcopd.org, published in Deer Park, IL, USA.
Global Leadership Initiative on Malnutrition stage 1 moderate malnutrition (disorder) en Attribution GLIM (Global Leadership Initiative on Malnutrition)
Global Leadership Initiative on Malnutrition stage 2 severe malnutrition (disorder) en Attribution GLIM (Global Leadership Initiative on Malnutrition)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome en Attribution Inserm Orphanet
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) en Attribution Inserm Orphanet
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome en Attribution Inserm Orphanet
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) en Attribution Inserm Orphanet
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) en Attribution Inserm Orphanet
Glomuvenous malformation (disorder) en Attribution Inserm Orphanet
Glossopalatine ankylosis (disorder) en Attribution Inserm Orphanet
Glucagon receptor-related hyperglucagonemia (disorder) en Attribution Inserm Orphanet
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder en Attribution Inserm Orphanet
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
QRICH1-related intellectual disability, chondrodysplasia syndrome en Attribution Inserm Orphanet
QRSL1-related combined oxidative phosphorylation defect en Attribution Inserm Orphanet
Glutathione synthetase deficiency en Attribution Inserm Orphanet
Glycogen storage disease due to acid maltase deficiency en Attribution Inserm Orphanet
Glycogen storage disease due to aldolase A deficiency (disorder) en Attribution Inserm Orphanet
Glycogen storage disease due to muscle beta-enolase deficiency en Attribution Inserm Orphanet
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) en Attribution Inserm Orphanet
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency en Attribution Inserm Orphanet
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) en Attribution Inserm Orphanet
Gnathodiaphyseal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Goldberg Shprintzen megacolon syndrome (disorder) en Attribution Inserm Orphanet
Goldmann-Favre syndrome en Attribution Inserm Orphanet
Gomez Lopez Hernandez syndrome (disorder) en Attribution Inserm Orphanet
Gonadoblastoma (disorder) en Attribution Inserm Orphanet
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) en Attribution Inserm Orphanet
Graham Little Piccardi Lassueur syndrome (disorder) en Attribution Inserm Orphanet
Grant syndrome en Attribution Inserm Orphanet
Grayson Wilbrandt dystrophy of cornea (disorder) en Attribution Inserm Orphanet
Growing teratoma syndrome en Attribution Inserm Orphanet
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome en Attribution Inserm Orphanet
Growth delay due to insulin-like growth factor I resistance (disorder) en Attribution Inserm Orphanet
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) en Attribution Inserm Orphanet
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
Growth delay, intellectual disability, hepatopathy syndrome en Attribution Inserm Orphanet
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Attribution Inserm Orphanet
Growth retardation, mild developmental delay, chronic hepatitis syndrome en Attribution Inserm Orphanet
Grubben, De Cock, Borghgraef syndrome en Attribution Inserm Orphanet
Guillain-Barré syndrome acute inflammatory demyelinating polyradiculoneuropathic form (disorder) en Attribution Inserm Orphanet
Haddad syndrome (disorder) en Attribution Inserm Orphanet
Haim Munk syndrome (disorder) en Attribution Inserm Orphanet
Hall Riggs syndrome (disorder) en Attribution Inserm Orphanet
Hallermann Streiff like syndrome en Attribution Inserm Orphanet
Hallux varus, preaxial polysyndactyly syndrome en Attribution Inserm Orphanet
Hao Fountain syndrome en Attribution Inserm Orphanet
Hao Fountain syndrome due to 16p13.2 microdeletion (disorder) en Attribution Inserm Orphanet
Harlequin syndrome (disorder) en Attribution Inserm Orphanet
Tungland Bellman syndrome en Attribution Inserm Orphanet
Heart defect and limb shortening syndrome (disorder) en Attribution Inserm Orphanet
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome Slovenian type (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome type 2 (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome type 3 (disorder) en Attribution Inserm Orphanet
Helicoid peripapillary chorioretinal degeneration (disorder) en Attribution Inserm Orphanet
Heme oxygenase-1 deficiency (disorder) en Attribution Inserm Orphanet
Hemiconvulsion-hemiplegia-epilepsy syndrome en Attribution International League Against Epilepsy
Hemidystonia hemiatrophy syndrome (disorder) en Attribution Inserm Orphanet
Hemifacial hyperplasia strabismus syndrome en Attribution Inserm Orphanet
Hemifacial microsomia with radial defect syndrome (disorder) en Attribution Inserm Orphanet
Hemifacial spasm en Attribution Inserm Orphanet
Hemihyperplasia with multiple lipomatosis syndrome en Attribution Inserm Orphanet
Hemiparkinsonism hemiatrophy syndrome (disorder) en Attribution Inserm Orphanet
Hemochromatosis type 3 (disorder) en Attribution Inserm Orphanet
Haemoglobin Bart's hydrops syndrome en Attribution Inserm Orphanet
Haemoglobinopathy Toms River en Attribution Inserm Orphanet
Hemolytic anemia due to adenylate kinase deficiency (disorder) en Attribution Inserm Orphanet
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) en Attribution Inserm Orphanet
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation en Attribution Inserm Orphanet
Hemorrhagic fever caused by Chapare virus (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever caused by Lujo virus (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever with renal syndrome (disorder) en Attribution Inserm Orphanet
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Hepatic glycogen synthase deficiency (disorder) en Attribution Inserm Orphanet
Hepatic lipase deficiency en Attribution Inserm Orphanet
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
Hepatitis B reinfection following transplantation of liver (disorder) en Attribution Inserm Orphanet
Hepatocellular adenoma en Attribution Inserm Orphanet
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) en Attribution Inserm Orphanet
Hepatoportal sclerosis (disorder) en Attribution Inserm Orphanet
Hereditary anetoderma (disorder) en Attribution Inserm Orphanet
Hereditary angioedema en Attribution Inserm Orphanet
Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency en Attribution Inserm Orphanet
Hereditary arterial and articular multiple calcification syndrome (disorder) en Attribution Inserm Orphanet
Hereditary breast and ovarian cancer syndrome (disorder) en Attribution Inserm Orphanet
Hereditary butyrylcholinesterase deficiency (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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