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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
Neurolymphomatosis en Attribution Inserm Orphanet
Neuronal intranuclear inclusion disease (disorder) en Attribution Inserm Orphanet
Neutropenia, monocytopenia, deafness syndrome (disorder) en Attribution Inserm Orphanet
Neutrophil immunodeficiency syndrome (disorder) en Attribution Inserm Orphanet
New-onset refractory status epilepticus en Attribution Inserm Orphanet
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Nijmegen breakage syndrome-like disorder (disorder) en Attribution Inserm Orphanet
Nodal marginal zone B-cell lymphoma (disorder) en Attribution Inserm Orphanet
Nodular lichen myxedematosus (disorder) en Attribution Inserm Orphanet
Nodular lymphoid hyperplasia of lung (disorder) en Attribution Inserm Orphanet
Non syndromic camptodactyly of fingers (disorder) en Attribution Inserm Orphanet
Non syndromic dextrocardia en Attribution Inserm Orphanet
Non-Wilsonian hepatic copper toxicosis of infancy and childhood (disorder) en Attribution Inserm Orphanet
Non-amyloid fibrillary glomerulonephritis (disorder) en Attribution Inserm Orphanet
Non-amyloid monoclonal immunoglobulin deposition disease (disorder) en Attribution Inserm Orphanet
Non-distal monosomy 10q (disorder) en Attribution Inserm Orphanet
Non-distal trisomy 10q en Attribution Inserm Orphanet
Non-distal trisomy 13q en Attribution Inserm Orphanet
Non-distal trisomy 9q en Attribution Inserm Orphanet
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) en Attribution Inserm Orphanet
Non-functioning neuroendocrine neoplasm of pancreas (disorder) en Attribution Inserm Orphanet
Non-functioning paraganglioma en Attribution Inserm Orphanet
Non-progressive cerebellar ataxia with intellectual disability (disorder) en Attribution Inserm Orphanet
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) en Attribution Inserm Orphanet
Non-recovering brachial plexus injury due to birth trauma (disorder) en Attribution Inserm Orphanet
Non-saccular limited dorsal myeloschisis (disorder) en Attribution Inserm Orphanet
Non-specific syndromic intellectual disability en Attribution Inserm Orphanet
Non-syndromic congenital stenosis of esophagus en Attribution Inserm Orphanet
Non-syndromic genetic hearing loss en Attribution Inserm Orphanet
Non-syndromic metopic craniosynostosis (disorder) en Attribution Inserm Orphanet
Non-terminal myelocystocele (disorder) en Attribution Inserm Orphanet
Noonan syndrome-like disorder with loose anagen hair (disorder) en Attribution Inserm Orphanet
Nuclear protein in testis carcinoma (disorder) en Attribution Inserm Orphanet
O'Sullivan McLeod syndrome en Attribution Inserm Orphanet
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) en Attribution Inserm Orphanet
Obesity due to melanocortin 4 receptor deficiency (disorder) en Attribution Inserm Orphanet
Obesity due to prohormone convertase I deficiency (disorder) en Attribution Inserm Orphanet
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Occult macular dystrophy (disorder) en Attribution Inserm Orphanet
Ocular albinism with late-onset sensorineural deafness (disorder) en Attribution Inserm Orphanet
Ocular anomalies, axonal neuropathy, developmental delay syndrome en Attribution Inserm Orphanet
Oculo-auriculo-vertebral spectrum en Attribution Inserm Orphanet
Oculoauricular syndrome Schorderet type en Attribution Inserm Orphanet
Oculocerebral hypopigmentation syndrome of Preus type (disorder) en Attribution Inserm Orphanet
Oculocerebrodental syndrome en Attribution Inserm Orphanet
Oculocerebrofacial syndrome Kaufman type (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 1 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 4 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 5 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 6 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 7 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 8 (disorder) en Attribution Inserm Orphanet
Oculogastrointestinal muscular dystrophy (disorder) en Attribution Inserm Orphanet
Oculogastrointestinal neurodevelopmental syndrome en Attribution Inserm Orphanet
Oculomaxillofacial dysostosis (disorder) en Attribution Inserm Orphanet
Oculoosteocutaneous syndrome (disorder) en Attribution Inserm Orphanet
Oculootodental syndrome en Attribution Inserm Orphanet
Oculootoradial syndrome (disorder) en Attribution Inserm Orphanet
Oculopalatocerebral syndrome (disorder) en Attribution Inserm Orphanet
Oculopharyngodistal myopathy (disorder) en Attribution Inserm Orphanet
Oculotrichodysplasia (disorder) en Attribution Inserm Orphanet
Odonto onycho dysplasia with alopecia syndrome en Attribution Inserm Orphanet
Odonto-tricho-ungual-digito-palmar syndrome (disorder) en Attribution Inserm Orphanet
Odontoma dysphagia syndrome (disorder) en Attribution Inserm Orphanet
Off-periods in Parkinson disease not responding to oral treatment en Attribution Inserm Orphanet
Oligocone trichromacy (disorder) en Attribution Inserm Orphanet
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) en Attribution Inserm Orphanet
Omodysplasia (disorder) en Attribution Inserm Orphanet
Ophthalmomandibulomelic dysplasia (disorder) en Attribution Inserm Orphanet
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Optic atrophy, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Oral-facial-digital syndrome with short stature and brachymesophalangia en Attribution Inserm Orphanet
Orgasm induced epilepsy en Attribution Inserm Orphanet
Oro-facial digital syndrome type 1 (disorder) en Attribution Inserm Orphanet
Oro-facial digital syndrome type 11 (disorder) en Attribution Inserm Orphanet
Oro-facial digital syndrome type 14 en Attribution Inserm Orphanet
Oro-facial digital syndrome type 5 (disorder) en Attribution Inserm Orphanet
Oro-facial digital syndrome type 8 (disorder) en Attribution Inserm Orphanet
Oro-facial digital syndrome type 9 (disorder) en Attribution Inserm Orphanet
Ossification anomaly with psychomotor developmental delay syndrome (disorder) en Attribution Inserm Orphanet
Osteocraniostenosis (disorder) en Attribution Inserm Orphanet
Osteofibrous dysplasia (disorder) en Attribution Inserm Orphanet
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Osteopenia, intellectual disability, sparse hair syndrome (disorder) en Attribution Inserm Orphanet
Heide syndrome en Attribution Inserm Orphanet
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) en Attribution Inserm Orphanet
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome en Attribution Inserm Orphanet
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) en Attribution Inserm Orphanet
Osteosclerotic metaphyseal dysplasia en Attribution Inserm Orphanet
Otodental syndrome (disorder) en Attribution Inserm Orphanet
Otofaciocervical syndrome en Attribution Inserm Orphanet
Overgrowth syndrome with 2q37 translocation en Attribution Inserm Orphanet
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Overhydrated hereditary stomatocytosis (disorder) en Attribution Inserm Orphanet
Pachygyria, intellectual disability, epilepsy syndrome (disorder) en Attribution Inserm Orphanet
Pacman dysplasia (disorder) en Attribution Inserm Orphanet
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome en Attribution Inserm Orphanet
Pallister W syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma Nagashima type (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma with clinodactyly syndrome (disorder) en Attribution Inserm Orphanet

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