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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
Autosomal spastic paraplegia type 72 en Attribution Inserm Orphanet
Autosomal systemic lupus erythematosus (disorder) en Attribution Inserm Orphanet
Osteonecrosis of jaw en Attribution Inserm Orphanet
Avascular necrosis of tarsus (disorder) en Attribution Inserm Orphanet
Axial mesodermal dysplasia spectrum (disorder) en Attribution Inserm Orphanet
Axial spondylometaphyseal dysplasia (disorder) en Attribution Inserm Orphanet
BENTA disease en Attribution Inserm Orphanet
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) en Attribution Inserm Orphanet
BAP1 tumor predisposition syndrome en Attribution Inserm Orphanet
Balint syndrome en Attribution Inserm Orphanet
Bamforth Lazarus syndrome (disorder) en Attribution Inserm Orphanet
Banki syndrome (disorder) en Attribution Inserm Orphanet
Baraitser Winter cerebrofrontofacial syndrome (disorder) en Attribution Inserm Orphanet
Basel Vanagaite Smirin Yosef syndrome (disorder) en Attribution Inserm Orphanet
Bathing suit ichthyosis (disorder) en Attribution Inserm Orphanet
Becker nevus syndrome en Attribution Inserm Orphanet
Behavioral variant of frontotemporal dementia (disorder) en Attribution Inserm Orphanet
Benign Samaritan congenital myopathy (disorder) en Attribution Inserm Orphanet
Benign adult familial myoclonic epilepsy (disorder) en Attribution Inserm Orphanet
Benign concentric annular macular dystrophy (disorder) en Attribution Inserm Orphanet
Benign epithelial tumor of salivary gland en Attribution Inserm Orphanet
Benign infantile focal epilepsy with midline spikes and waves during sleep en Attribution Inserm Orphanet
Benign intraocular medulloepithelioma (disorder) en Attribution Inserm Orphanet
Benign metanephric tumour en Attribution Inserm Orphanet
Benign nocturnal alternating hemiplegia of childhood en Attribution Inserm Orphanet
Benign occipital lobe epilepsy (disorder) en Attribution Inserm Orphanet
Benign paroxysmal tonic upgaze of childhood with ataxia (disorder) en Attribution Inserm Orphanet
Benign paroxysmal torticollis of infancy (disorder) en Attribution Inserm Orphanet
Benign partial epilepsy of infancy with complex partial seizures en Attribution Inserm Orphanet
Benign partial epilepsy with secondarily generalized seizures in infancy en Attribution Inserm Orphanet
Best vitelliform macular dystrophy (disorder) en Attribution Inserm Orphanet
Beta thalassemia X-linked thrombocytopenia syndrome (disorder) en Attribution Inserm Orphanet
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Beta-D-mannosidosis en Attribution Inserm Orphanet
Beta-mercaptolactate cysteine disulfiduria (disorder) en Attribution Inserm Orphanet
Beta-propeller protein-associated neurodegeneration (disorder) en Attribution Inserm Orphanet
Bethlem myopathy (disorder) en Attribution Inserm Orphanet
Biemond syndrome type 2 (disorder) en Attribution Inserm Orphanet
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Attribution Inserm Orphanet
Bifid nose (disorder) en Attribution Inserm Orphanet
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Bilateral microtia with deafness and cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Bilateral polymicrogyria (disorder) en Attribution Inserm Orphanet
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) en Attribution Inserm Orphanet
Biliary atresia with splenic malformation syndrome (disorder) en Attribution Inserm Orphanet
Bipartite talus (disorder) en Attribution Inserm Orphanet
Birt Hogg Dubé syndrome en Attribution Inserm Orphanet
Birth defect due to maternal hyperthermia (disorder) en Attribution Inserm Orphanet
Blau syndrome en Attribution Inserm Orphanet
Bleeding diathesis due to collagen receptor defect en Attribution Inserm Orphanet
Bleeding diathesis due to thromboxane synthesis deficiency en Attribution Inserm Orphanet
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) en Attribution Inserm Orphanet
Blepharocheilodontic syndrome (disorder) en Attribution Inserm Orphanet
Blepharonasofacial malformation syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) en Attribution Inserm Orphanet
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant en Attribution Inserm Orphanet
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) en Attribution Inserm Orphanet
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) en Attribution Inserm Orphanet
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) en Attribution Inserm Orphanet
Blindness, scoliosis, arachnodactyly syndrome (disorder) en Attribution Inserm Orphanet
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Attribution Inserm Orphanet
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) en Attribution Inserm Orphanet
Bohring Opitz syndrome (disorder) en Attribution Inserm Orphanet
Bone dysplasia lethal Holmgren type (disorder) en Attribution Inserm Orphanet
Book syndrome (disorder) en Attribution Inserm Orphanet
Bosley Salih Alorainy syndrome (disorder) en Attribution Inserm Orphanet
Bothnia retinal dystrophy (disorder) en Attribution Inserm Orphanet
Brachydactylous dwarfism Mseleni type en Attribution Inserm Orphanet
Brachydactyly and arterial hypertension syndrome (disorder) en Attribution Inserm Orphanet
Brachydactyly and distal symphalangism syndrome (disorder) en Attribution Inserm Orphanet
Brachydactyly and preaxial hallux varus syndrome en Attribution Inserm Orphanet
Brachydactyly elbow wrist dysplasia (disorder) en Attribution Inserm Orphanet
Brachydactyly type A1 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A2 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A4 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A6 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A7 (disorder) en Attribution Inserm Orphanet
Brachydactyly type B2 (disorder) en Attribution Inserm Orphanet
Brachydactyly with syndactyly Zhao type (disorder) en Attribution Inserm Orphanet
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) en Attribution Inserm Orphanet
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) en Attribution Inserm Orphanet
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Attribution Inserm Orphanet
Brachytelephalangic chondrodysplasia punctata (disorder) en Attribution Inserm Orphanet
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) en Attribution Inserm Orphanet
Braddock syndrome (disorder) en Attribution Inserm Orphanet
BRESEK syndrome en Attribution Inserm Orphanet
Brain calcification Rajab type (disorder) en Attribution Inserm Orphanet
Brain dopamine-serotonin vesicular transport disease (disorder) en Attribution Inserm Orphanet
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome en Attribution Inserm Orphanet
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) en Attribution Inserm Orphanet
Branchiogenic deafness syndrome (disorder) en Attribution Inserm Orphanet
Branchiootic syndrome (disorder) en Attribution Inserm Orphanet
BSG syndrome en Attribution Inserm Orphanet
Brittle cornea syndrome (disorder) en Attribution Inserm Orphanet
Budd-Chiari syndrome en Attribution Inserm Orphanet
Bullous dystrophy macular type (disorder) en Attribution Inserm Orphanet
Butterfly-shaped pigmentary macular dystrophy (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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