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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
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) 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 pheochromocytoma and secreting paraganglioma 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
Steinfeld syndrome (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
Stevens-Johnson syndrome, toxic epidermal necrolysis spectrum (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
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
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 (disorder) 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, telecanthus, anogenital and renal malformation syndrome (disorder) 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 recessive X-linked ichthyosis (disorder) en Attribution Inserm Orphanet
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect en Attribution Inserm Orphanet
Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) 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
TBCK-related intellectual disability 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
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
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
Thiamine-responsive encephalopathy (disorder) en Attribution Inserm Orphanet
Thickened earlobe with conductive deafness syndrome (disorder) en Attribution Inserm Orphanet
Thinking epilepsy (disorder) en Attribution Inserm Orphanet
Thoraco-abdominal enteric duplication (disorder) en Attribution Inserm Orphanet
Thoracolaryngopelvic dysplasia en Attribution Inserm Orphanet
Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome (disorder) en Attribution Inserm Orphanet
Thrombomodulin-related bleeding disorder (disorder) en Attribution Inserm Orphanet
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Thymic, renal, anal, lung dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Thyrocerebrorenal syndrome en Attribution Inserm Orphanet
Tibial aplasia and ectrodactyly syndrome (disorder) en Attribution Inserm Orphanet
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome en Attribution Inserm Orphanet
Tibio-fibular synostosis en Attribution Inserm Orphanet
Timothy syndrome (disorder) en Attribution Inserm Orphanet
Toriello Carey syndrome en Attribution Inserm Orphanet
Torsade de pointes with short coupling interval syndrome (disorder) en Attribution Inserm Orphanet
Toxic maculopathy of bilateral eyes caused by antimalarial drug en Attribution Inserm Orphanet
Transient bullous dermolysis of newborn (disorder) en Attribution Inserm Orphanet
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Transient pseudohypoaldosteronism (disorder) en Attribution Inserm Orphanet
Transmembrane protein 199 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Transthyretin related familial amyloid cardiomyopathy (disorder) en Attribution Inserm Orphanet
Trichodermodysplasia and dental alterations syndrome en Attribution Inserm Orphanet
Trichodysplasia spinulosa caused by Polyomavirus (disorder) en Attribution Inserm Orphanet
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) en Attribution Inserm Orphanet
Trichodysplasia xeroderma syndrome (disorder) en Attribution Inserm Orphanet
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) en Attribution Inserm Orphanet
Trichoodontoonychial dysplasia en Attribution Inserm Orphanet
Trichothiodystrophy (disorder) en Attribution Inserm Orphanet

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