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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)

4145 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
Hemorrhagic fever caused by Lujo virus (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever with renal 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 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
Hereditary cavernous hemangioma of brain (disorder) en Attribution Inserm Orphanet
Hereditary cerebral hemorrhage with amyloidosis (disorder) en Attribution Inserm Orphanet
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) en Attribution Inserm Orphanet
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome en Attribution Inserm Orphanet
Hereditary congenital prekallikrein deficiency (disorder) en Attribution Inserm Orphanet
Hereditary continuous muscle fiber activity en Attribution Inserm Orphanet
Hereditary diffuse carcinoma of stomach (disorder) en Attribution Inserm Orphanet
Hereditary geniospasm (disorder) en Attribution Inserm Orphanet
Hereditary hypercarotenemia and vitamin A deficiency (disorder) en Attribution Inserm Orphanet
Hereditary hyperekplexia (disorder) en Attribution Inserm Orphanet
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis simplex (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis simplex of scalp (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) en Attribution Inserm Orphanet
Hereditary inclusion body myopathy type 4 (disorder) en Attribution Inserm Orphanet
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) en Attribution Inserm Orphanet
Hereditary keratoacanthoma (disorder) en Attribution Inserm Orphanet
Hereditary leiomyomatosis and renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary motor and sensory neuropathy Okinawa type (disorder) en Attribution Inserm Orphanet
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Attribution Inserm Orphanet
Hereditary papillary renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary persistence of alpha-fetoprotein (disorder) en Attribution Inserm Orphanet
Hereditary pheochromocytoma and paraganglioma (disorder) en Attribution Inserm Orphanet
Hereditary primary clear cell renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 1B (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 6 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 8 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Attribution Inserm Orphanet
Hereditary skin peeling syndrome (disorder) en Attribution Inserm Orphanet
Hereditary thrombocytopenia with early-onset myelofibrosis en Attribution Inserm Orphanet
Hereditary transthyretin related amyloidosis (disorder) en Attribution Inserm Orphanet
Hereditary von Willebrand disease en Attribution Inserm Orphanet
Hidrotic ectodermal dysplasia Halal type (disorder) en Attribution Inserm Orphanet
High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements en Attribution Inserm Orphanet
Hip dysplasia Beukes type (disorder) en Attribution Inserm Orphanet
Upington disease en Attribution Inserm Orphanet
Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) en Attribution Inserm Orphanet
Hirschsprung disease with type D brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly and postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) en Attribution Inserm Orphanet
Hartsfield syndrome en Attribution Inserm Orphanet
Homocystinuria without methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Hot water reflex epilepsy en Attribution Inserm Orphanet
House allergic alveolitis (disorder) en Attribution Inserm Orphanet
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) en Attribution Inserm Orphanet
Hughes Stovin syndrome (disorder) en Attribution Inserm Orphanet
Hunter McAlpine craniosynostosis syndrome (disorder) en Attribution Inserm Orphanet
Huntington disease-like 2 (disorder) en Attribution Inserm Orphanet
Huntington disease-like 3 en Attribution Inserm Orphanet
Hyaline fibromatosis syndrome en Attribution Inserm Orphanet
Hydroa vacciniforme-like lymphoma (disorder) en Attribution Inserm Orphanet
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus with obesity and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, tall stature, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Hydrolethalus syndrome (disorder) en Attribution Inserm Orphanet
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) en Attribution Inserm Orphanet
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) en Attribution Inserm Orphanet
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) en Attribution Inserm Orphanet
Hypercortisolism due to macronodular adrenal hyperplasia (disorder) en Attribution Inserm Orphanet
Hypereosinophilic syndrome due to disease (disorder) en Attribution Inserm Orphanet
Hypergonadotropic hypogonadism with cataract syndrome (disorder) en Attribution Inserm Orphanet
Hyperinsulinism and hyperammonemia syndrome (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to deficiency of glucokinase (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to insulin receptor deficiency (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) en Attribution Inserm Orphanet
Hypermanganesemia with dystonia 2 (disorder) en Attribution Inserm Orphanet
Hypermethioninemia due to deficiency of glycine N-methyltransferase en Attribution Inserm Orphanet
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) en Attribution Inserm Orphanet
Hyperostosis cranialis interna (disorder) en Attribution Inserm Orphanet
Hyperphenylalanineaemia due to DNAJC12 deficiency en Attribution Inserm Orphanet
Hyperplastic polyposis syndrome en Attribution Inserm Orphanet
Hyperprolinemia type 2 (disorder) en Attribution Inserm Orphanet
Hypertelorism Teebi type (disorder) en Attribution Inserm Orphanet
Hypertelorism with microtia and facial clefting syndrome (disorder) en Attribution Inserm Orphanet
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) en Attribution Inserm Orphanet
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Attribution Inserm Orphanet
Hyperuricemia, anemia, renal failure syndrome (disorder) en Attribution Inserm Orphanet
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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