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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
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome en Attribution Inserm Orphanet
Reversible cerebral vasoconstriction syndrome en Attribution Inserm Orphanet
Revesz syndrome (disorder) en Attribution Inserm Orphanet
Rhabdomyosarcoma of cervix uteri en Attribution Inserm Orphanet
Rhabdomyosarcoma of corpus uteri (disorder) en Attribution Inserm Orphanet
Vulvovaginal rhabdomyosarcoma en Attribution Inserm Orphanet
Rhizomelic dysplasia of Patterson Lowry type (disorder) en Attribution Inserm Orphanet
Rhizomelic syndrome Urbach type en Attribution Inserm Orphanet
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) en Attribution Inserm Orphanet
Richards-Rundle syndrome (disorder) en Attribution Inserm Orphanet
Richieri Costa-da Silva syndrome en Attribution Inserm Orphanet
Ring chromosome 1 syndrome en Attribution Inserm Orphanet
Ring chromosome 10 syndrome en Attribution Inserm Orphanet
Ring chromosome 11 syndrome en Attribution Inserm Orphanet
Ring chromosome 12 syndrome en Attribution Inserm Orphanet
Ring chromosome 13 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 14 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 15 syndrome en Attribution Inserm Orphanet
Ring chromosome 16 syndrome en Attribution Inserm Orphanet
Ring chromosome 17 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 18 syndrome en Attribution Inserm Orphanet
Ring chromosome 19 syndrome en Attribution Inserm Orphanet
Ring chromosome 2 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 20 syndrome en Attribution Inserm Orphanet
Ring chromosome 21 syndrome en Attribution Inserm Orphanet
Ring chromosome 22 syndrome en Attribution Inserm Orphanet
Ring chromosome 3 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 4 syndrome en Attribution Inserm Orphanet
Ring chromosome 5 syndrome en Attribution Inserm Orphanet
Ring chromosome 6 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 7 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 8 syndrome (disorder) en Attribution Inserm Orphanet
Ring chromosome 9 syndrome en Attribution Inserm Orphanet
Ring chromosome Y syndrome (disorder) en Attribution Inserm Orphanet
Ring dermoid of cornea (disorder) en Attribution Inserm Orphanet
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) en Attribution Inserm Orphanet
Rippling muscle disease with myasthenia gravis (disorder) en Attribution Inserm Orphanet
Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, end stage en Attribution ADQI - Acute Disease Quality Initiative
Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, failure stage en Attribution ADQI - Acute Disease Quality Initiative
Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, injury stage en Attribution ADQI - Acute Disease Quality Initiative
Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, loss stage (disorder) en Attribution ADQI - Acute Disease Quality Initiative
Risk, Injury, Failure, Loss of kidney function, and End-stage kidney disease classification, risk stage (disorder) en Attribution ADQI - Acute Disease Quality Initiative
Robin sequence and oligodactyly syndrome en Attribution Inserm Orphanet
Robinow syndrome en Attribution Inserm Orphanet
Roch Leri mesosomatous lipomatosis (disorder) en Attribution Inserm Orphanet
Roifman syndrome (disorder) en Attribution Inserm Orphanet
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) en Attribution Inserm Orphanet
Rolandic epilepsy, speech dyspraxia syndrome (disorder) en Attribution Inserm Orphanet
Rombo syndrome (disorder) en Attribution Inserm Orphanet
Rosette-forming glioneuronal neoplasm en Attribution Inserm Orphanet
SBDS ribosome maturation factor-related severe neonatal spondylometaphyseal dysplasia (disorder) en Attribution Inserm Orphanet
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
SIM1-related Prader-Willi-like syndrome en Attribution Inserm Orphanet
SIX homeobox 2-related frontonasal dysplasia (disorder) en Attribution Inserm Orphanet
SMARCA4-deficient undifferentiated neoplasm of thorax (disorder) en Attribution Inserm Orphanet
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) en Attribution Inserm Orphanet
SMARCA2-related blepharophimosis, intellectual disability syndrome en Attribution Inserm Orphanet
Saccular limited dorsal myeloschisis (disorder) en Attribution Inserm Orphanet
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome en Attribution Inserm Orphanet
Sagliker syndrome (disorder) en Attribution Inserm Orphanet
Sanjad Sakati syndrome (disorder) en Attribution Inserm Orphanet
Satoyoshi syndrome en Attribution Inserm Orphanet
Scalp defect postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Scalp, ear, nipple syndrome (disorder) en Attribution Inserm Orphanet
Scar of eye due to and following filtration operation for glaucoma (disorder) en Attribution Inserm Orphanet
Scedosporiosis (disorder) en Attribution Inserm Orphanet
Schilbach Rott syndrome (disorder) en Attribution Inserm Orphanet
Schimke immuno-osseous dysplasia (disorder) en Attribution Inserm Orphanet
Schisis association syndrome (disorder) en Attribution Inserm Orphanet
Scleredema en Attribution Inserm Orphanet
Scleroderma en Attribution Inserm Orphanet
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome en Attribution Inserm Orphanet
Seaver Cassidy syndrome (disorder) en Attribution Inserm Orphanet
SCALP syndrome en Attribution Inserm Orphanet
Seborrhea-like dermatitis with psoriasiform elements (disorder) en Attribution Inserm Orphanet
Secondary intestinal lymphangiectasia en Attribution Inserm Orphanet
Secondary non-traumatic avascular necrosis of bone en Attribution Inserm Orphanet
Secondary pulmonary hemosiderosis (disorder) en Attribution Inserm Orphanet
Secondary syringomyelia en Attribution Inserm Orphanet
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome en Attribution Inserm Orphanet
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia en Attribution Inserm Orphanet
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) en Attribution Inserm Orphanet
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) en Attribution Inserm Orphanet
Seizures, scoliosis, macrocephaly syndrome (disorder) en Attribution Inserm Orphanet
Selective intrauterine growth restriction en Attribution Inserm Orphanet
Self-healing collodion baby (disorder) en Attribution Inserm Orphanet
Self-limited epilepsy with autonomic seizures (disorder) en Attribution Inserm Orphanet
Self-limited familial infantile epilepsy en Attribution Inserm Orphanet
Self-limited familial neonatal-infantile epilepsy en Attribution Inserm Orphanet
Semicircular canal dehiscence syndrome (disorder) en Attribution Inserm Orphanet
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) en Attribution Inserm Orphanet
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) en Attribution Inserm Orphanet
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) en Attribution Inserm Orphanet
Sepsis of premature infant (disorder) en Attribution Inserm Orphanet
Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) en Attribution Inserm Orphanet
Serotonin-producing neuroendocrine neoplasm of pancreas en Attribution Inserm Orphanet
Serous carcinoma of body of uterus (disorder) en Attribution Inserm Orphanet
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) en Attribution Inserm Orphanet
Severe X-linked intellectual disability Gustavson type (disorder) en Attribution Inserm Orphanet
Severe X-linked mitochondrial encephalomyopathy (disorder) en Attribution Inserm Orphanet
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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