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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)

2698 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
Hereditary thrombocytopenia with early-onset myelofibrosis en Attribution Inserm Orphanet
Hereditary transthyretin related amyloidosis (disorder) en Attribution Inserm Orphanet
Hereditary von Willebrand disease en Attribution Inserm Orphanet
High grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements en Attribution Inserm Orphanet
Upington disease en Attribution Inserm Orphanet
Holoprosencephaly and postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) en Attribution Inserm Orphanet
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) en Attribution Inserm Orphanet
Hyaline fibromatosis syndrome en Attribution Inserm Orphanet
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) en Attribution Inserm Orphanet
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Attribution Inserm Orphanet
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) en Attribution Inserm Orphanet
Hypereosinophilic syndrome due to disease (disorder) en Attribution Inserm Orphanet
Hyperinsulinism and hyperammonemia syndrome (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to deficiency of glucokinase (disorder) en Attribution Inserm Orphanet
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) en Attribution Inserm Orphanet
Hyperostosis cranialis interna (disorder) en Attribution Inserm Orphanet
Hyperphenylalanineaemia due to DNAJC12 deficiency en Attribution Inserm Orphanet
Hyperprolinemia type 2 (disorder) en Attribution Inserm Orphanet
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) en Attribution Inserm Orphanet
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) en Attribution Inserm Orphanet
Hypomyelination of early myelinating structures (disorder) en Attribution Inserm Orphanet
L1 syndrome en Attribution Inserm Orphanet
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) en Attribution Inserm Orphanet
Hypothalamic adipsic hypernatremia syndrome (disorder) en Attribution Inserm Orphanet
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Attribution Inserm Orphanet
Idiopathic achalasia of esophagus (disorder) en Attribution Inserm Orphanet
Idiopathic acroosteolysis of phalanx en Attribution Inserm Orphanet
Idiopathic avascular necrosis of bone en Attribution Inserm Orphanet
Idiopathic catatonia (disorder) en Attribution Inserm Orphanet
Idiopathic congenital hypothyroidism (disorder) en Attribution Inserm Orphanet
Idiopathic ductopenia (disorder) en Attribution Inserm Orphanet
Idiopathic neonatal atrial flutter (disorder) en Attribution Inserm Orphanet
Idiopathic non-lupus full-house nephropathy en Attribution Inserm Orphanet
Idiopathic optic perineuritis (disorder) en Attribution Inserm Orphanet
Idiopathic peliosis hepatis en Attribution Inserm Orphanet
Idiopathic pleuroparenchymal fibroelastosis en Attribution Inserm Orphanet
Idiopathic scleritis en Attribution Inserm Orphanet
Idiopathic spontaneous coronary artery dissection en Attribution Inserm Orphanet
Idiopathic steroid-resistant nephrotic syndrome (disorder) en Attribution Inserm Orphanet
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance en Attribution Inserm Orphanet
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) en Attribution Inserm Orphanet
Immune-mediated scleritis (disorder) en Attribution Inserm Orphanet
Major histocompatibility complex class II deficiency en Attribution Inserm Orphanet
Immunoglobulin G4 related aortitis (disorder) en Attribution Inserm Orphanet
Immunoglobulin G4 related eosinophilic angiocentric fibrosis (disorder) en Attribution Inserm Orphanet
Immunoglobulin G4 related kidney disease en Attribution Inserm Orphanet
Immunoglobulin G4 related ophthalmic disease (disorder) en Attribution Inserm Orphanet
Immunoglobulin G4 related submandibular gland disease en Attribution Inserm Orphanet
Infantile convulsion and choreoathetosis syndrome (disorder) en Attribution Inserm Orphanet
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Infantile inflammatory bowel disease with neurological involvement (disorder) en Attribution Inserm Orphanet
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) en Attribution Inserm Orphanet
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome en Attribution Inserm Orphanet
Infantile striatonigral degeneration (disorder) en Attribution Inserm Orphanet
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) en Attribution Inserm Orphanet
Infantile-onset generalised dyskinesia with orofacial involvement en Attribution Inserm Orphanet
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) en Attribution Inserm Orphanet
Infection of intestine caused by cyclospora cayetanensis (disorder) en Attribution Inserm Orphanet
Infection-related hemolytic uremic syndrome (disorder) en Attribution Inserm Orphanet
Infective dermatitis associated with human T-cell lymphotropic virus 1 infection (disorder) en Attribution Inserm Orphanet
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome en Attribution Inserm Orphanet
Inflammatory pseudotumor of liver (disorder) en Attribution Inserm Orphanet
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement en Attribution Inserm Orphanet
Integral membrane protein 2B related amyloidosis (disorder) en Attribution Inserm Orphanet
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cupped ears syndrome en Attribution Inserm Orphanet
Intellectual disability, early-onset cataract, microcephaly syndrome en Attribution Inserm Orphanet
Intellectual disability, epilepsy, extrapyramidal syndrome en Attribution Inserm Orphanet
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome en Attribution Inserm Orphanet
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) en Attribution Inserm Orphanet
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome en Attribution Inserm Orphanet
Interleukin 21 related infantile inflammatory bowel disease (disorder) en Attribution Inserm Orphanet
Intermediate collagen VI-related muscular dystrophy (disorder) en Attribution Inserm Orphanet
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) en Attribution Inserm Orphanet
Intermediate nemaline myopathy en Attribution Inserm Orphanet
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) en Attribution Inserm Orphanet
Interstitial lung disease due to surfactant protein C deficiency (disorder) en Attribution Inserm Orphanet
Intestinal malabsorption due to bile acid synthesis defect (disorder) en Attribution Inserm Orphanet
Intraductal tubulopapillary malignant neoplasm of pancreas (disorder) en Attribution Inserm Orphanet
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) en Attribution Inserm Orphanet
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome en Attribution Inserm Orphanet
Intravascular large B-cell lymphoma (disorder) en Attribution Inserm Orphanet
Inverse Klippel Trénaunay syndrome (disorder) en Attribution Inserm Orphanet
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) en Attribution Inserm Orphanet
Isolated agenesis of cerebellar vermis (disorder) en Attribution Inserm Orphanet
Isolated anterior cervical hypertrichosis (disorder) en Attribution Inserm Orphanet
Isolated aplasia of optic nerve (disorder) en Attribution Inserm Orphanet
Isolated blepharochalasis (disorder) en Attribution Inserm Orphanet
Isolated bone marrow mastocytosis (disorder) en Attribution Inserm Orphanet
Isolated cleft lip (disorder) en Attribution Inserm Orphanet
Isolated congenital alacrima (disorder) en Attribution Inserm Orphanet
Isolated congenital distichiasis (disorder) en Attribution Inserm Orphanet
Isolated cryptophthalmos (disorder) en Attribution Inserm Orphanet
Isolated cytochrome C oxidase deficiency (disorder) en Attribution Inserm Orphanet
Isolated encephalocele en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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