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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
Hyperandrogenism due to cortisone reductase deficiency en Attribution Inserm Orphanet
Hyperbiliverdinaemia en Attribution Inserm Orphanet
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 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
Hyperekplexia epilepsy syndrome (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
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection en Attribution Inserm Orphanet
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) en Attribution Inserm Orphanet
Hyperimmunoglobulinemia D with periodic fever (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
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) en Attribution Inserm Orphanet
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) en Attribution Inserm Orphanet
Hypertrichosis cubiti (disorder) en Attribution Inserm Orphanet
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) en Attribution Inserm Orphanet
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Attribution Inserm Orphanet
Hypertyrosinemia, Richner-Hanhart type (disorder) en Attribution Inserm Orphanet
Hyperuricemia, anemia, renal failure syndrome (disorder) en Attribution Inserm Orphanet
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome en Attribution Inserm Orphanet
Hyperzincemia and hypercalprotectinemia (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
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) en Attribution Inserm Orphanet
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) en Attribution Inserm Orphanet
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Hypoinsulinemic hypoglycemia and body hemihypertrophy en Attribution Inserm Orphanet
Hypomandibular faciocranial dysostosis (disorder) en Attribution Inserm Orphanet
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) en Attribution Inserm Orphanet
Hypomyelination neuropathy arthrogryposis syndrome (disorder) en Attribution Inserm Orphanet
Hypomyelination of early myelinating structures (disorder) en Attribution Inserm Orphanet
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) en Attribution Inserm Orphanet
Hypoparathyroidism, deafness, renal disease syndrome (disorder) en Attribution Inserm Orphanet
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Attribution Inserm Orphanet
L1 syndrome en Attribution Inserm Orphanet
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) en Attribution Inserm Orphanet
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) en Attribution Inserm Orphanet
Hypothalamic adipsic hypernatremia syndrome (disorder) en Attribution Inserm Orphanet
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Attribution Inserm Orphanet
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis and deafness syndrome en Attribution Inserm Orphanet
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) en Attribution Inserm Orphanet
Hypotrichosis with juvenile macular degeneration syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome en Attribution Inserm Orphanet
Ichthyosis hystrix of Curth-Macklin en Attribution Inserm Orphanet
Ichthyosis prematurity syndrome en Attribution Inserm Orphanet
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome en Attribution Inserm Orphanet
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) en Attribution Inserm Orphanet
Ichthyosis, oral and digital anomalies syndrome en Attribution Inserm Orphanet
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome en Attribution Inserm Orphanet
Idiopathic CD4 lymphocytopenia (disorder) en Attribution Inserm Orphanet
Idiopathic achalasia of esophagus (disorder) en Attribution Inserm Orphanet
Idiopathic acroosteolysis of phalanx en Attribution Inserm Orphanet
Idiopathic avascular necrosis of bone en Attribution Inserm Orphanet
Idiopathic bilateral vestibulopathy en Attribution Inserm Orphanet
Idiopathic catatonia (disorder) en Attribution Inserm Orphanet
Idiopathic congenital hypothyroidism (disorder) en Attribution Inserm Orphanet
Idiopathic ductopenia (disorder) en Attribution Inserm Orphanet
Idiopathic eosinophilic myositis (disorder) en Attribution Inserm Orphanet
Idiopathic linear interstitial keratitis (disorder) en Attribution Inserm Orphanet
Idiopathic livedo reticularis with summer ulceration en Attribution Inserm Orphanet
Idiopathic macular telangiectasia type 1 (disorder) en Attribution Inserm Orphanet
Idiopathic macular telangiectasia type 3 (disorder) en Attribution Inserm Orphanet
Idiopathic membranous glomerulonephritis (disorder) en Attribution Inserm Orphanet
Idiopathic neonatal atrial flutter (disorder) en Attribution Inserm Orphanet
Idiopathic non-lupus full-house nephropathy en Attribution Inserm Orphanet
Idiopathic optic perineuritis (disorder) en Attribution Inserm Orphanet
Idiopathic panuveitis en Attribution Inserm Orphanet
Idiopathic peliosis hepatis en Attribution Inserm Orphanet
Idiopathic pleuroparenchymal fibroelastosis en Attribution Inserm Orphanet
Idiopathic posterior uveitis en Attribution Inserm Orphanet
Idiopathic recurrent pericarditis (disorder) en Attribution Inserm Orphanet
Idiopathic recurrent stupor en Attribution Inserm Orphanet
Idiopathic retinal vasculitis, aneurysms, neuroretinitis syndrome (disorder) en Attribution Inserm Orphanet
Idiopathic scleritis en Attribution Inserm Orphanet
Idiopathic spontaneous coronary artery dissection en Attribution Inserm Orphanet
Idiopathic steroid-resistant nephrotic syndrome (disorder) en Attribution Inserm Orphanet
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance en Attribution Inserm Orphanet
Idiopathic subglottic stenosis (disorder) en Attribution Inserm Orphanet
Idiopathic trachyonychia (disorder) en Attribution Inserm Orphanet
Idiopathic uveal effusion syndrome en Attribution Inserm Orphanet
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome en Attribution Inserm Orphanet
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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