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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
Oligocone trichromacy (disorder) en Attribution Inserm Orphanet
Oligodontia en Attribution Inserm Orphanet
Oligodontia and cancer predisposition syndrome en Attribution Inserm Orphanet
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder) en Attribution Inserm Orphanet
Omenn syndrome en Attribution Inserm Orphanet
Omodysplasia (disorder) en Attribution Inserm Orphanet
Onychocytic matricoma (disorder) en Attribution Inserm Orphanet
Onychomatricoma (disorder) en Attribution Inserm Orphanet
Ophthalmomandibulomelic dysplasia (disorder) en Attribution Inserm Orphanet
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (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
Optic nerve edema, splenomegaly 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
Osteomesopyknosis (disorder) en Attribution Inserm Orphanet
Osteopathia striata, pigmentary dermopathy, white forelock syndrome en Attribution Inserm Orphanet
Osteopenia, intellectual disability, sparse hair syndrome (disorder) en Attribution Inserm Orphanet
Osteopetrosis hypogammaglobulinemia syndrome (disorder) en Attribution Inserm Orphanet
Osteoporosis and macrocephaly with blindness and joint hypermobility 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
Oto-palato-digital syndrome, type I en Attribution Inserm Orphanet
Oto-palato-digital syndrome, type II 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
Pachydermoperiostosis syndrome en Attribution Inserm Orphanet
Pachygyria, intellectual disability, epilepsy syndrome (disorder) en Attribution Inserm Orphanet
Pacman dysplasia (disorder) en Attribution Inserm Orphanet
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome 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 esophageal carcinoma syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma with clinodactyly syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma with deafness syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) en Attribution Inserm Orphanet
Pancreatic agenesis, holoprosencephaly syndrome en Attribution Inserm Orphanet
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) en Attribution Inserm Orphanet
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) en Attribution Inserm Orphanet
Pancytopenia due to IKZF1 mutations en Attribution Inserm Orphanet
Pancytopenia with developmental delay syndrome en Attribution Inserm Orphanet
Panhypophysitis (disorder) en Attribution Inserm Orphanet
Panniculitis induced localized lipodystrophy en Attribution Inserm Orphanet
Papillary glioneuronal tumor of brain (disorder) en Attribution Inserm Orphanet
Papillary intralymphatic angioendothelioma (disorder) en Attribution Inserm Orphanet
Papular elastorrhexis (disorder) en Attribution Inserm Orphanet
Papular epidermal naevi with skyline basal cell layers syndrome en Attribution Inserm Orphanet
Papular mucinosis of infancy (disorder) en Attribution Inserm Orphanet
Papular xanthoma en Attribution Inserm Orphanet
Parana hard skin syndrome (disorder) en Attribution Inserm Orphanet
Paraneoplastic isolated brainstem encephalitis en Attribution Inserm Orphanet
Paraneoplastic uveitis (disorder) en Attribution Inserm Orphanet
Paraparetic variant of Guillain-Barré syndrome en Attribution Inserm Orphanet
Parietal foramina with clavicular hypoplasia en Attribution Inserm Orphanet
Parkinsonian pyramidal syndrome (disorder) en Attribution Inserm Orphanet
Parkinsonism caused by cyanide en Attribution Inserm Orphanet
Parkinsonism co-occurrent with dementia of Guadeloupe (disorder) en Attribution Inserm Orphanet
Parkinsonism with polyneuropathy (disorder) en Attribution Inserm Orphanet
Paroxysmal exertion-induced dyskinesia (disorder) en Attribution Inserm Orphanet
Partial agenesis of pancreas (disorder) en Attribution Inserm Orphanet
Partial androgen insensitivity syndrome (disorder) en Attribution Inserm Orphanet
Partial chromosome Y deletion (disorder) en Attribution Inserm Orphanet
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome en Attribution Inserm Orphanet
Partial defect of atrioventricular canal (disorder) en Attribution Inserm Orphanet
Partially involuting congenital hemangioma (disorder) en Attribution Inserm Orphanet
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) en Attribution Inserm Orphanet
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 1 (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 13 en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 21 (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 5 (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 6 en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 7 en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome X en Attribution Inserm Orphanet
Patterson Stevenson Fontaine syndrome (disorder) en Attribution Inserm Orphanet
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) en Attribution Inserm Orphanet
Pediatric arterial ischemic stroke en Attribution Inserm Orphanet
Pediatric collagenous gastritis en Attribution Inserm Orphanet
Pediatric hepatocellular carcinoma en Attribution Inserm Orphanet
Paediatric multiple sclerosis en Attribution Inserm Orphanet
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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