FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

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
Multiple mitochondrial dysfunctions syndrome type 1 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 3 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 4 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) en Attribution Inserm Orphanet
Multiple osteochondroma of long bone (disorder) en Attribution Inserm Orphanet
Multiple paraganglioma associated with polycythaemia en Attribution Inserm Orphanet
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) en Attribution Inserm Orphanet
Myelic limited dorsal malformation (disorder) en Attribution Inserm Orphanet
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) en Attribution Inserm Orphanet
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) en Attribution Inserm Orphanet
Myopathic Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Myopericytoma en Attribution Inserm Orphanet
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) en Attribution Inserm Orphanet
MYH9 related disease en Attribution Inserm Orphanet
Myotonia fluctuans (disorder) en Attribution Inserm Orphanet
Myotonia permanens (disorder) en Attribution Inserm Orphanet
Myxopapillary ependymoma of spinal cord (disorder) en Attribution Inserm Orphanet
NAD(P)HX dehydratase deficiency (disorder) en Attribution Inserm Orphanet
NAD(P)HX epimerase deficiency (disorder) en Attribution Inserm Orphanet
NEK9-related lethal skeletal dysplasia en Attribution Inserm Orphanet
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Attribution Inserm Orphanet
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) en Attribution Inserm Orphanet
Nanophthalmia (disorder) en Attribution Inserm Orphanet
Neonatal compartment syndrome en Attribution Inserm Orphanet
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) en Attribution Inserm Orphanet
Neonatal epileptic encephalopathy due to glutaminase deficiency en Attribution Inserm Orphanet
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) en Attribution Inserm Orphanet
Neonatal severe primary hyperparathyroidism (disorder) en Attribution Inserm Orphanet
Nephronophthisis hepatic fibrosis syndrome (disorder) en Attribution Inserm Orphanet
Neuhauser Eichner Opitz syndrome (disorder) en Attribution Inserm Orphanet
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) en Attribution Inserm Orphanet
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) en Attribution Inserm Orphanet
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome en Attribution Inserm Orphanet
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome en Attribution Inserm Orphanet
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) en Attribution Inserm Orphanet
Neuroendocrine carcinoma of thymus (disorder) en Attribution Inserm Orphanet
Neuroendocrine neoplasm of colon (disorder) en Attribution Inserm Orphanet
Neurofibromatosis Noonan syndrome (disorder) en Attribution Inserm Orphanet
Neurofibromatosis type 6 en Attribution Inserm Orphanet
Neurogenic arthrogryposis multiplex congenita (disorder) en Attribution Inserm Orphanet
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) en Attribution Inserm Orphanet
Neuronal intranuclear inclusion disease (disorder) en Attribution Inserm Orphanet
Night blindness, skeletal anomalies, dysmorphism syndrome (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-functioning neuroendocrine neoplasm of pancreas (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
Nuclear protein in testis carcinoma (disorder) en Attribution Inserm Orphanet
O'Sullivan McLeod syndrome en Attribution Inserm Orphanet
Obesity due to melanocortin 4 receptor deficiency (disorder) en Attribution Inserm Orphanet
Ocular anomalies, axonal neuropathy, developmental delay syndrome en Attribution Inserm Orphanet
Oculo-auriculo-vertebral spectrum en Attribution Inserm Orphanet
Oculocerebral hypopigmentation syndrome of Preus type (disorder) en Attribution Inserm Orphanet
Oculocerebrodental syndrome en Attribution Inserm Orphanet
Oculocutaneous albinism type 4 (disorder) en Attribution Inserm Orphanet
Oculocutaneous albinism type 8 (disorder) en Attribution Inserm Orphanet
Oculogastrointestinal neurodevelopmental syndrome 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
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (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
Oral-facial-digital syndrome with short stature and brachymesophalangia en Attribution Inserm Orphanet
Oro-facial digital syndrome type 11 (disorder) en Attribution Inserm Orphanet
Oro-facial digital syndrome type 9 (disorder) en Attribution Inserm Orphanet
Osteofibrous dysplasia (disorder) en Attribution Inserm Orphanet
Heide syndrome en Attribution Inserm Orphanet
Osteosclerotic metaphyseal dysplasia en Attribution Inserm Orphanet
Otodental syndrome (disorder) en Attribution Inserm Orphanet
Overgrowth syndrome with 2q37 translocation en Attribution Inserm Orphanet
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (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, hereditary motor and sensory neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Pancreatic agenesis, holoprosencephaly syndrome 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 mucinosis of infancy (disorder) en Attribution Inserm Orphanet
Paraneoplastic uveitis (disorder) en Attribution Inserm Orphanet
Parkinsonism co-occurrent with dementia of Guadeloupe (disorder) en Attribution Inserm Orphanet
Parkinsonism with polyneuropathy (disorder) en Attribution Inserm Orphanet
Partial agenesis of pancreas (disorder) en Attribution Inserm Orphanet
Partial chromosome Y deletion (disorder) en Attribution Inserm Orphanet
Partial defect of atrioventricular canal (disorder) en Attribution Inserm Orphanet
Partially involuting congenital hemangioma (disorder) en Attribution Inserm Orphanet
Paternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet

Start Previous Page 17 of 27 Next End

Reference Sets

Reference set descriptor

GB English

US English

Back to Start