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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
Amyotrophic lateral sclerosis, parkinsonism, dementia complex en Attribution Inserm Orphanet
Anaplastic lymphoma kinase positive large B-cell lymphoma (disorder) en Attribution Inserm Orphanet
Angel-shaped phalangoepiphyseal dysplasia (disorder) en Attribution Inserm Orphanet
Angio-osteohypertrophic syndrome (disorder) en Attribution Inserm Orphanet
Angioosteohypotrophic syndrome en Attribution Inserm Orphanet
Angiocentric glioma of central nervous system (disorder) en Attribution Inserm Orphanet
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) en Attribution Inserm Orphanet
Aniridia and absent patella syndrome (disorder) en Attribution Inserm Orphanet
Aniridia and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) en Attribution Inserm Orphanet
Aniridia, renal agenesis, psychomotor retardation syndrome en Attribution Inserm Orphanet
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) en Attribution Inserm Orphanet
Annular atrophic lichen planus (disorder) en Attribution Inserm Orphanet
Annular epidermolytic ichthyosis (disorder) en Attribution Inserm Orphanet
Anonychia with microcephaly syndrome (disorder) en Attribution Inserm Orphanet
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) en Attribution Inserm Orphanet
Anophthalmia plus syndrome (disorder) en Attribution Inserm Orphanet
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Anti-p200 pemphigoid en Attribution Inserm Orphanet
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Aphalangy and syndactyly with microcephaly syndrome (disorder) en Attribution Inserm Orphanet
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome en Attribution Inserm Orphanet
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) en Attribution Inserm Orphanet
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) en Attribution Inserm Orphanet
Aplasia cutis with myopia syndrome (disorder) en Attribution Inserm Orphanet
Aplasia of fibula and ectrodactyly syndrome (disorder) en Attribution Inserm Orphanet
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) en Attribution Inserm Orphanet
Aplasia of trochlea of humerus (disorder) en Attribution Inserm Orphanet
AMeD syndrome en Attribution Inserm Orphanet
Apnea of infancy (disorder) en Attribution Inserm Orphanet
Apolipoprotein A-IV amyloidosis en Attribution Inserm Orphanet
Aprosencephaly cerebellar dysgenesis en Attribution Inserm Orphanet
Aprosencephaly/atelencephaly spectrum en Attribution Inserm Orphanet
Aquagenic palmoplantar keratoderma (disorder) en Attribution Inserm Orphanet
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Schofer Beetz Bohl syndrome en Attribution Inserm Orphanet
RERE-related neurodevelopmental syndrome en Attribution Inserm Orphanet
RARS-related autosomal recessive hypomyelinating leucodystrophy en Attribution Inserm Orphanet
Aromatic L-amino acid decarboxylase deficiency disorder (disorder) en Attribution Inserm Orphanet
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) en Attribution Inserm Orphanet
Arterial dissection and lentiginosis syndrome (disorder) en Attribution Inserm Orphanet
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) en Attribution Inserm Orphanet
Arthrogryposis multiplex congenita en Attribution Inserm Orphanet
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) en Attribution Inserm Orphanet
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) en Attribution Inserm Orphanet
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Ataxia pancytopenia syndrome en Attribution Inserm Orphanet
Ataxia telangiectasia variant en Attribution Inserm Orphanet
Ataxia with deafness and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Atelosteogenesis type 1 (disorder) en Attribution Inserm Orphanet
Atelosteogenesis type 3 (disorder) en Attribution Inserm Orphanet
Athabaskan brainstem dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) en Attribution Inserm Orphanet
Atrial septal defect, atrioventricular conduction defect syndrome (disorder) en Attribution Inserm Orphanet
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome en Attribution Inserm Orphanet
Attenuated Chédiak-Higashi syndrome (disorder) en Attribution Inserm Orphanet
Attenuated familial adenomatous polyposis (disorder) en Attribution Inserm Orphanet
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) en Attribution Inserm Orphanet
Atypical Norrie disease due to monosomy Xp11.3 (disorder) en Attribution Inserm Orphanet
Atypical Rett syndrome (disorder) en Attribution Inserm Orphanet
Atypical Werner syndrome (disorder) en Attribution Inserm Orphanet
Atypical juvenile parkinsonism (disorder) en Attribution Inserm Orphanet
Atypical lichen myxedematosus (disorder) en Attribution Inserm Orphanet
Atypical papilloma of choroid plexus en Attribution Inserm Orphanet
Audiogenic epilepsy en Attribution Inserm Orphanet
Auditory neuropathy, optic atrophy syndrome (disorder) en Attribution Inserm Orphanet
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Auricular abnormality, cleft lip, ocular abnormality syndrome en Attribution Inserm Orphanet
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) en Attribution Inserm Orphanet
Autoimmune encephalopathy with parasomnia and obstructive sleep apnoea en Attribution Inserm Orphanet
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) en Attribution Inserm Orphanet
Autoimmune hemolytic anemia mixed type (disorder) en Attribution Inserm Orphanet
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
Autoimmune interstitial lung disease, arthritis syndrome (disorder) en Attribution Inserm Orphanet
Autoimmune limbic encephalitis (disorder) en Attribution Inserm Orphanet
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency en Attribution Inserm Orphanet
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) en Attribution Inserm Orphanet
Autoimmune necrotizing myopathy (disorder) en Attribution Inserm Orphanet
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2DD en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) en Attribution Inserm Orphanet
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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