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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
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 I deficiency en Attribution Inserm Orphanet
Major histocompatibility complex class II deficiency en Attribution Inserm Orphanet
Immunodeficiency due to CD25 deficiency (disorder) en Attribution Inserm Orphanet
Immunodeficiency due to ficolin 3 deficiency (disorder) en Attribution Inserm Orphanet
Immunodeficiency due to MASP-2 deficiency en Attribution Inserm Orphanet
FADD-related immunodeficiency en Attribution Inserm Orphanet
Immunodeficiency with factor I anomaly (disorder) 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 pachymeningitis en Attribution Inserm Orphanet
Immunoglobulin G4 related submandibular gland disease en Attribution Inserm Orphanet
Immunotactoid glomerulonephritis (disorder) en Attribution Inserm Orphanet
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) en Attribution Inserm Orphanet
Infant epilepsy with migrant focal crisis (disorder) en Attribution Inserm Orphanet
Infantile cerebellar and retinal degeneration (disorder) en Attribution Inserm Orphanet
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly en Attribution Inserm Orphanet
Infantile choroidocerebral calcification syndrome (disorder) en Attribution Inserm Orphanet
Infantile convulsion and choreoathetosis syndrome (disorder) en Attribution Inserm Orphanet
Infantile dystonia parkinsonism (disorder) en Attribution Inserm Orphanet
Infantile epileptic dyskinetic encephalopathy (disorder) en Attribution Inserm Orphanet
Infantile epileptic spasms syndrome (disorder) en Attribution International League Against Epilepsy
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (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 malignant osteopetrosis 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 onset panniculitis with uveitis and systemic granulomatosis (disorder) en Attribution Inserm Orphanet
Infantile onset spinocerebellar ataxia (disorder) en Attribution Inserm Orphanet
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Infantile mercury poisoning en Attribution Inserm Orphanet
Infantile spasm and broad thumb syndrome (disorder) en Attribution Inserm Orphanet
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) en Attribution Inserm Orphanet
Infantile striatonigral degeneration (disorder) en Attribution Inserm Orphanet
Infantile systemic hyalinosis en Attribution Inserm Orphanet
Infantile-onset autosomal recessive non progressive cerebellar ataxia 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 mesial temporal lobe epilepsy with severe cognitive regression (disorder) en Attribution Inserm Orphanet
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) en Attribution Inserm Orphanet
Hendra virus infection en Attribution Inserm Orphanet
Pseudotyphus of California 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
Cavitary myiasis en Attribution Inserm Orphanet
Inflammation of pituitary due to and following immunotherapy (disorder) en Attribution Inserm Orphanet
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome en Attribution Inserm Orphanet
Inflammatory myofibroblastic tumour en Attribution Inserm Orphanet
Inflammatory myopathy with abundant macrophages en Attribution Inserm Orphanet
Inflammatory pseudotumor of liver (disorder) en Attribution Inserm Orphanet
Infundibulo neurohypophysitis (disorder) en Attribution Inserm Orphanet
Inherited acute myeloid leukemia (disorder) en Attribution Inserm Orphanet
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutation (disorder) en Attribution Inserm Orphanet
Inherited congenital spastic tetraplegia en Attribution Inserm Orphanet
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency en Attribution Inserm Orphanet
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement en Attribution Inserm Orphanet
Insulin autoimmune syndrome (disorder) en Attribution Inserm Orphanet
Integral membrane protein 2B related amyloidosis (disorder) en Attribution Inserm Orphanet
Intellectual disability Birk-Barel type en Attribution Inserm Orphanet
Intellectual disability Buenos Aires type (disorder) en Attribution Inserm Orphanet
Intellectual disability Wolff type en Attribution Inserm Orphanet
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability with strabismus syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, alacrima, achalasia syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome en Attribution Inserm Orphanet
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Attribution Inserm Orphanet
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome en Attribution Inserm Orphanet
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cupped ears syndrome en Attribution Inserm Orphanet
Intellectual disability, developmental delay, contracture syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, early-onset cataract, microcephaly syndrome en Attribution Inserm Orphanet
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, epilepsy, extrapyramidal syndrome en Attribution Inserm Orphanet
MEHMO syndrome en Attribution Inserm Orphanet
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome en Attribution Inserm Orphanet
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism 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, myopathy, short stature, endocrine defect syndrome en Attribution Inserm Orphanet
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, polydactyly, uncombable hair syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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