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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
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome en Attribution Inserm Orphanet
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) en Attribution Inserm Orphanet
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) en Attribution Inserm Orphanet
Hypomandibular faciocranial dysostosis (disorder) en Attribution Inserm Orphanet
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) en Attribution Inserm Orphanet
Hypomyelination neuropathy arthrogryposis syndrome (disorder) en Attribution Inserm Orphanet
Hypomyelination of early myelinating structures (disorder) en Attribution Inserm Orphanet
Hypoparathyroidism, deafness, renal disease syndrome (disorder) en Attribution Inserm Orphanet
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) en Attribution Inserm Orphanet
L1 syndrome en Attribution Inserm Orphanet
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) 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
Hypothalamic hamartoma with gelastic seizure en Attribution Inserm Orphanet
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) en Attribution Inserm Orphanet
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) en Attribution Inserm Orphanet
Hypotrichosis with juvenile macular degeneration syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) en Attribution Inserm Orphanet
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome en Attribution Inserm Orphanet
Ichthyosis prematurity syndrome en Attribution Inserm Orphanet
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome en Attribution Inserm Orphanet
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) en Attribution Inserm Orphanet
Ichthyosis, oral and digital anomalies syndrome en Attribution Inserm Orphanet
Idiopathic CD4 lymphocytopenia (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 bilateral vestibulopathy 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 membranous glomerulonephritis (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 panuveitis en Attribution Inserm Orphanet
Idiopathic peliosis hepatis en Attribution Inserm Orphanet
Idiopathic pleuroparenchymal fibroelastosis en Attribution Inserm Orphanet
Idiopathic recurrent pericarditis (disorder) en Attribution Inserm Orphanet
Idiopathic recurrent stupor 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
Idiopathic trachyonychia (disorder) 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 I deficiency en Attribution Inserm Orphanet
Major histocompatibility complex class II deficiency en Attribution Inserm Orphanet
Immunodeficiency due to ficolin 3 deficiency (disorder) en Attribution Inserm Orphanet
FADD-related immunodeficiency 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
Infant epilepsy with migrant focal crisis (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 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 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 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
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
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome en Attribution Inserm Orphanet
Inflammatory myopathy with abundant macrophages en Attribution Inserm Orphanet
Inflammatory pseudotumor of liver (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 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
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, 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, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, cupped ears syndrome en Attribution Inserm Orphanet

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