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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
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia A4 type (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia Golden type (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia Schmidt type (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome en Attribution Inserm Orphanet
Spondylometaphyseal dysplasia, corneal dystrophy syndrome en Attribution Inserm Orphanet
Spondyloperipheral dysplasia with short ulna syndrome (disorder) en Attribution Inserm Orphanet
Sporadic adult-onset ataxia of unknown etiology (disorder) en Attribution Inserm Orphanet
Sporadic fetal brain disruption sequence en Attribution Inserm Orphanet
Sporadic hyperekplexia (disorder) en Attribution Inserm Orphanet
Squamous cell carcinoma of corpus uteri (disorder) en Attribution Inserm Orphanet
Squamous cell carcinoma of exocrine pancreas en Attribution Inserm Orphanet
Stapes ankylosis with broad thumb and toe syndrome (disorder) en Attribution Inserm Orphanet
Startle epilepsy en Attribution Inserm Orphanet
Steatocystoma multiplex with natal tooth syndrome (disorder) en Attribution Inserm Orphanet
Steinert myotonic dystrophy syndrome en Attribution Inserm Orphanet
Steinfeld syndrome (disorder) en Attribution Inserm Orphanet
SAMD9L-associated autoinflammatory syndrome en Attribution Inserm Orphanet
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) en Attribution Inserm Orphanet
Stern Lubinsky Durrie syndrome (disorder) en Attribution Inserm Orphanet
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) en Attribution Inserm Orphanet
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (disorder) en Attribution Inserm Orphanet
Stevens-Johnson syndrome en Attribution Inserm Orphanet
Stevens-Johnson syndrome, toxic epidermal necrolysis spectrum (disorder) en Attribution Inserm Orphanet
Stickler syndrome type 3 (disorder) en Attribution Inserm Orphanet
Stiff person spectrum disorder (disorder) en Attribution Inserm Orphanet
Stiff skin syndrome en Attribution Inserm Orphanet
Striate palmoplantar keratoderma (disorder) en Attribution Inserm Orphanet
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome en Attribution Inserm Orphanet
Stromme syndrome en Attribution Inserm Orphanet
Subaortic course of innominate vein en Attribution Inserm Orphanet
Subaortic stenosis and short stature syndrome en Attribution Inserm Orphanet
Subepithelial mucinous corneal dystrophy (disorder) en Attribution Inserm Orphanet
Sugarman brachydactyly (disorder) en Attribution Inserm Orphanet
Hyperphalangy en Attribution Inserm Orphanet
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) en Attribution Inserm Orphanet
Susceptibility to localized juvenile periodontitis en Attribution Inserm Orphanet
Susceptibility to respiratory infection associated with CD8alpha chain mutation en Attribution Inserm Orphanet
Susceptibility to viral and mycobacterial infection en Attribution Inserm Orphanet
Symmetrical thalamic calcification (disorder) en Attribution Inserm Orphanet
Symphalangism with multiple anomalies of hands and feet syndrome en Attribution Inserm Orphanet
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) en Attribution Inserm Orphanet
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) en Attribution Inserm Orphanet
Symptomatic form of fragile X syndrome in female carrier en Attribution Inserm Orphanet
Symptomatic form of hemochromatosis type 1 (disorder) en Attribution Inserm Orphanet
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier en Attribution Inserm Orphanet
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
Syndactyly type 1 (disorder) en Attribution Inserm Orphanet
Syndactyly type 2 (disorder) en Attribution Inserm Orphanet
Syndactyly type 3 (disorder) en Attribution Inserm Orphanet
Syndactyly type 4 (disorder) en Attribution Inserm Orphanet
Syndactyly type 5 (disorder) en Attribution Inserm Orphanet
Syndactyly type 6 en Attribution Inserm Orphanet
Cenani Lenz syndrome en Attribution Inserm Orphanet
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) en Attribution Inserm Orphanet
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication en Attribution Inserm Orphanet
Syndactyly, polydactyly, ear lobe syndrome (disorder) en Attribution Inserm Orphanet
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) en Attribution Inserm Orphanet
Syndrome of apparent mineralocorticoid excess en Attribution Inserm Orphanet
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) en Attribution Inserm Orphanet
Syndromic X-linked intellectual disability type 11 (disorder) en Attribution Inserm Orphanet
Syndromic X-linked intellectual disability type 7 (disorder) en Attribution Inserm Orphanet
Syndromic congenital sodium diarrhoea en Attribution Inserm Orphanet
Syndromic hypoplasia of orbital border (disorder) en Attribution Inserm Orphanet
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) en Attribution Inserm Orphanet
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) en Attribution Inserm Orphanet
Syndromic recessive X-linked ichthyosis (disorder) en Attribution Inserm Orphanet
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect en Attribution Inserm Orphanet
STXBP1 developmental and epileptic encephalopathy en Attribution Inserm Orphanet
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency en Attribution Inserm Orphanet
T-cell immunodeficiency with epidermodysplasia verruciformis en Attribution Inserm Orphanet
T-cell receptor alpha-beta-positive T-cell deficiency en Attribution Inserm Orphanet
TBCK-related intellectual disability syndrome en Attribution Inserm Orphanet
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome en Attribution Inserm Orphanet
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Tall stature, intellectual disability, renal anomalies syndrome en Attribution Inserm Orphanet
Tall stature, scoliosis, macrodactyly of great toe syndrome en Attribution Inserm Orphanet
Talo-patello-scaphoid osteolysis syndrome (disorder) en Attribution Inserm Orphanet
Tangier disease (disorder) en Attribution Inserm Orphanet
Teebi Shaltout syndrome en Attribution Inserm Orphanet
Tel Hashomer camptodactyly syndrome (disorder) en Attribution Inserm Orphanet
Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) en Attribution Inserm Orphanet
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) en Attribution Inserm Orphanet
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) en Attribution Inserm Orphanet
Temple Baraitser syndrome (disorder) en Attribution Inserm Orphanet
Temple syndrome (disorder) en Attribution Inserm Orphanet
Temtamy preaxial brachydactyly syndrome en Attribution Inserm Orphanet
Teratoma of testis en Attribution Inserm Orphanet
Terminal myelocystocele en Attribution Inserm Orphanet
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) en Attribution Inserm Orphanet
Tetraamelia with multiple malformation syndrome (disorder) en Attribution Inserm Orphanet
Tetramelic monodactyly en Attribution Inserm Orphanet
Tetrasomy 11q24.1 (disorder) en Attribution Inserm Orphanet
Tetrasomy 21 (disorder) en Attribution Inserm Orphanet
Tetrasomy 5p syndrome (disorder) en Attribution Inserm Orphanet
Tetrasomy X syndrome en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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