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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
Familial scaphocephaly syndrome McGillivray type (disorder) en Attribution Inserm Orphanet
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency en Attribution Inserm Orphanet
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) en Attribution Inserm Orphanet
Familial supernumerary nipple en Attribution Inserm Orphanet
Familial temporal lobe epilepsy (disorder) en Attribution Inserm Orphanet
Familial thoracic aortic aneurysm and aortic dissection en Attribution Inserm Orphanet
Familial thrombocytosis (disorder) en Attribution Inserm Orphanet
Familial thrombomodulin anomalies (disorder) en Attribution Inserm Orphanet
Familial thyroglossal duct cyst (disorder) en Attribution Inserm Orphanet
Familial thyroid dyshormonogenesis (disorder) en Attribution Inserm Orphanet
Familial vesicoureteral reflux (disorder) en Attribution Inserm Orphanet
Arts syndrome en Attribution Inserm Orphanet
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease en Attribution Inserm Orphanet
Fatal infantile cytochrome C oxidase deficiency (disorder) en Attribution Inserm Orphanet
Fatal infantile hypertonic myofibrillar myopathy (disorder) en Attribution Inserm Orphanet
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) en Attribution Inserm Orphanet
Fatal post-viral neurodegenerative disorder en Attribution Inserm Orphanet
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) en Attribution Inserm Orphanet
Febrile infection-related epilepsy syndrome en Attribution Inserm Orphanet
Faecal incontinence following creation of ileo-anal pouch en Attribution Inserm Orphanet
Female infertility due to oocyte meiotic arrest en Attribution Inserm Orphanet
Female infertility due to zona pellucida defect (disorder) en Attribution Inserm Orphanet
Femur fibula ulna complex en Attribution Inserm Orphanet
FTH1-related iron overload en Attribution Inserm Orphanet
Ferro-cerebro-cutaneous syndrome en Attribution Inserm Orphanet
Ferroportin disease en Attribution Inserm Orphanet
Lethal congenital contracture syndrome type 5 en Attribution Inserm Orphanet
Fetal diethylstilbestrol syndrome (disorder) en Attribution Inserm Orphanet
Propylthiouracil embryofetopathy en Attribution Inserm Orphanet
Fetal encasement syndrome (disorder) en Attribution Inserm Orphanet
Fetal iodine syndrome (disorder) en Attribution Inserm Orphanet
Fetal parvovirus syndrome (disorder) en Attribution Inserm Orphanet
Fetal twin anemia-polycythemia sequence en Attribution Inserm Orphanet
Fetal varicella syndrome (disorder) en Attribution Inserm Orphanet
Fever-associated acute infantile liver failure syndrome (disorder) en Attribution Inserm Orphanet
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) en Attribution Inserm Orphanet
Fibrochondrogenesis en Attribution Inserm Orphanet
Fibronectin glomerulopathy en Attribution Inserm Orphanet
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome en Attribution Inserm Orphanet
Fibrothecoma of ovary en Attribution Inserm Orphanet
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome en Attribution Inserm Orphanet
Fibular dimelia diplopodia syndrome (disorder) en Attribution Inserm Orphanet
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome en Attribution Inserm Orphanet
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) en Attribution Inserm Orphanet
FLNA-related X-linked myxomatous valvular dysplasia en Attribution Inserm Orphanet
Filippi syndrome (disorder) en Attribution Inserm Orphanet
Fine Lubinsky syndrome (disorder) en Attribution Inserm Orphanet
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) en Attribution Inserm Orphanet
Finnish upper limb onset distal myopathy en Attribution Inserm Orphanet
Fish-eye disease en Attribution Inserm Orphanet
Flat face, microstomia, ear anomaly syndrome (disorder) en Attribution Inserm Orphanet
Florid cemento-osseous dysplasia (disorder) en Attribution Inserm Orphanet
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) en Attribution Inserm Orphanet
Focal facial dermal dysplasia (disorder) en Attribution Inserm Orphanet
Focal palmoplantar and gingival keratoderma en Attribution Inserm Orphanet
Focal palmoplantar keratoderma with joint keratoses (disorder) en Attribution Inserm Orphanet
Foix Chavany Marie syndrome (disorder) en Attribution Inserm Orphanet
Folinic acid responsive developmental and epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
Follicular cholangitis and pancreatitis (disorder) en Attribution Inserm Orphanet
Foveal hypoplasia with presenile cataract syndrome en Attribution Inserm Orphanet
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Fragile X associated primary ovarian insufficiency en Attribution Inserm Orphanet
Frank-Ter Haar syndrome (disorder) en Attribution Inserm Orphanet
Freeman-Sheldon syndrome en Attribution Inserm Orphanet
Fried syndrome (disorder) en Attribution Inserm Orphanet
Frontal fibrosing alopecia (disorder) en Attribution Inserm Orphanet
Frontofacionasal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome en Attribution Inserm Orphanet
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) en Attribution Inserm Orphanet
Frontorhiny (disorder) en Attribution Inserm Orphanet
Fryns Smeets Thiry syndrome en Attribution Inserm Orphanet
Fucosidosis en Attribution Inserm Orphanet
Fuhrmann syndrome (disorder) en Attribution Inserm Orphanet
Full schwannomatosis en Attribution Inserm Orphanet
Fundus albipunctatus en Attribution Inserm Orphanet
Fundus pulverulentus (disorder) en Attribution Inserm Orphanet
Furuncular myiasis (disorder) en Attribution Inserm Orphanet
G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) en Attribution Inserm Orphanet
GNB5-related intellectual disability, cardiac arrhythmia syndrome en Attribution Inserm Orphanet
Gabriele-de Vries syndrome en Attribution Inserm Orphanet
Galloway Mowat syndrome (disorder) en Attribution Inserm Orphanet
Gangliocytoma of central nervous system (disorder) en Attribution Inserm Orphanet
Ganglioside GM3 synthase deficiency (disorder) en Attribution Inserm Orphanet
GJC2-related late-onset primary lymphedema en Attribution Inserm Orphanet
Gastric adenocarcinoma and proximal polyposis of stomach (disorder) en Attribution Inserm Orphanet
Gastrocutaneous syndrome en Attribution Inserm Orphanet
Gelastic seizures with hypothalamic hamartoma (disorder) en Attribution Inserm Orphanet
Gemignani syndrome (disorder) en Attribution Inserm Orphanet
Generalized basaloid follicular hamartoma syndrome (disorder) en Attribution Inserm Orphanet
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) en Attribution Inserm Orphanet
Generalized peeling skin syndrome (disorder) en Attribution Inserm Orphanet
Genetic hyperferritinemia without iron overload en Attribution Inserm Orphanet
Genetic non-syndromic childhood obesity (disorder) en Attribution Inserm Orphanet
Genetic recurrent myoglobinuria (disorder) en Attribution Inserm Orphanet
Genetic steroid-resistant nephrotic syndrome (disorder) en Attribution Inserm Orphanet
Genetic transient congenital hypothyroidism (disorder) en Attribution Inserm Orphanet
Genitopalatocardiac syndrome en Attribution Inserm Orphanet
Genochondromatosis type 2 (disorder) en Attribution Inserm Orphanet
German syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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