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
Familial thyroglossal duct cyst (disorder) en Attribution Inserm Orphanet
Familial thyroid dyshormonogenesis (disorder) en Attribution Inserm Orphanet
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease en Attribution Inserm Orphanet
Fatal infantile cytochrome C oxidase deficiency (disorder) en Attribution Inserm Orphanet
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) en Attribution Inserm Orphanet
Faecal incontinence following creation of ileo-anal pouch en Attribution Inserm Orphanet
Female infertility due to oocyte meiotic arrest en Attribution Inserm Orphanet
Female restricted epilepsy with intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Femur fibula ulna complex en Attribution Inserm Orphanet
FTH1-related iron overload en Attribution Inserm Orphanet
Ferroportin disease en Attribution Inserm Orphanet
Fetal diethylstilbestrol syndrome (disorder) en Attribution Inserm Orphanet
Fetal encasement syndrome (disorder) en Attribution Inserm Orphanet
Fetal iodine syndrome (disorder) en Attribution Inserm Orphanet
Fetal parvovirus syndrome (disorder) en Attribution Inserm Orphanet
Fetal twin anemia-polycythemia sequence en Attribution Inserm Orphanet
Fetal varicella syndrome (disorder) en Attribution Inserm Orphanet
Fever-associated acute infantile liver failure syndrome (disorder) en Attribution Inserm Orphanet
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome en Attribution Inserm Orphanet
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) en Attribution Inserm Orphanet
FLNA-related X-linked myxomatous valvular dysplasia en Attribution Inserm Orphanet
Florid cemento-osseous dysplasia (disorder) en Attribution Inserm Orphanet
Folinic acid responsive seizure syndrome (disorder) en Attribution Inserm Orphanet
Fragile X associated primary ovarian insufficiency en Attribution Inserm Orphanet
Fried syndrome (disorder) en Attribution Inserm Orphanet
Frontal fibrosing alopecia (disorder) en Attribution Inserm Orphanet
Frontofacionasal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome en Attribution Inserm Orphanet
Frontorhiny (disorder) en Attribution Inserm Orphanet
Fryns Smeets Thiry syndrome en Attribution Inserm Orphanet
Full schwannomatosis en Attribution Inserm Orphanet
Furuncular myiasis (disorder) en Attribution Inserm Orphanet
G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) en Attribution Inserm Orphanet
GNB5-related intellectual disability, cardiac arrhythmia syndrome en Attribution Inserm Orphanet
Gabriele-de Vries syndrome en Attribution Inserm Orphanet
GJC2-related late-onset primary lymphedema en Attribution Inserm Orphanet
Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) en Attribution Inserm Orphanet
Generalized peeling skin syndrome (disorder) en Attribution Inserm Orphanet
Genetic non-syndromic obesity (disorder) en Attribution Inserm Orphanet
Genetic recurrent myoglobinuria (disorder) en Attribution Inserm Orphanet
Genetic steroid-resistant nephrotic syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis and hypertrichosis syndrome (disorder) en Attribution Inserm Orphanet
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome en Attribution Inserm Orphanet
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome en Attribution Inserm Orphanet
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) en Attribution Inserm Orphanet
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) en Attribution Inserm Orphanet
Glomuvenous malformation (disorder) en Attribution Inserm Orphanet
Glossopalatine ankylosis (disorder) en Attribution Inserm Orphanet
Glucagon receptor-related hyperglucagonemia (disorder) en Attribution Inserm Orphanet
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder en Attribution Inserm Orphanet
QRICH1-related intellectual disability, chondrodysplasia syndrome en Attribution Inserm Orphanet
QRSL1-related combined oxidative phosphorylation defect en Attribution Inserm Orphanet
Glycogen storage disease due to aldolase A deficiency (disorder) en Attribution Inserm Orphanet
Glycogen storage disease due to muscle beta-enolase deficiency en Attribution Inserm Orphanet
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency en Attribution Inserm Orphanet
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) en Attribution Inserm Orphanet
Gnathodiaphyseal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Goldberg Shprintzen megacolon syndrome (disorder) en Attribution Inserm Orphanet
Gonadoblastoma (disorder) en Attribution Inserm Orphanet
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) en Attribution Inserm Orphanet
Graham Little Piccardi Lassueur syndrome (disorder) en Attribution Inserm Orphanet
Grayson Wilbrandt dystrophy of cornea (disorder) en Attribution Inserm Orphanet
Growing teratoma syndrome en Attribution Inserm Orphanet
Growth delay due to insulin-like growth factor I resistance (disorder) en Attribution Inserm Orphanet
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) en Attribution Inserm Orphanet
Growth delay, intellectual disability, hepatopathy syndrome en Attribution Inserm Orphanet
Guillain-Barré syndrome acute inflammatory demyelinating polyradiculoneuropathic form (disorder) en Attribution Inserm Orphanet
Hallermann Streiff like syndrome en Attribution Inserm Orphanet
Tungland Bellman syndrome en Attribution Inserm Orphanet
Heme oxygenase-1 deficiency (disorder) en Attribution Inserm Orphanet
Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever caused by Chapare virus (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever caused by Lujo virus (disorder) en Attribution Inserm Orphanet
Hemorrhagic fever with renal syndrome (disorder) en Attribution Inserm Orphanet
Hepatitis B reinfection following transplantation of liver (disorder) en Attribution Inserm Orphanet
Hepatocellular adenoma en Attribution Inserm Orphanet
Hepatoportal sclerosis (disorder) en Attribution Inserm Orphanet
Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency en Attribution Inserm Orphanet
Hereditary arterial and articular multiple calcification syndrome (disorder) en Attribution Inserm Orphanet
Hereditary breast and ovarian cancer syndrome (disorder) en Attribution Inserm Orphanet
Hereditary butyrylcholinesterase deficiency (disorder) en Attribution Inserm Orphanet
Hereditary cavernous hemangioma of brain (disorder) en Attribution Inserm Orphanet
Hereditary congenital prekallikrein deficiency (disorder) en Attribution Inserm Orphanet
Hereditary continuous muscle fiber activity en Attribution Inserm Orphanet
Hereditary diffuse carcinoma of stomach (disorder) en Attribution Inserm Orphanet
Hereditary geniospasm (disorder) en Attribution Inserm Orphanet
Hereditary hypotrichosis simplex of scalp (disorder) en Attribution Inserm Orphanet
Hereditary keratoacanthoma (disorder) en Attribution Inserm Orphanet
Hereditary leiomyomatosis and renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary motor and sensory neuropathy Okinawa type (disorder) en Attribution Inserm Orphanet
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Attribution Inserm Orphanet
Hereditary papillary renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Hereditary persistence of alpha-fetoprotein (disorder) en Attribution Inserm Orphanet
Hereditary pheochromocytoma and paraganglioma (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 1B (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 6 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy type 8 (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) en Attribution Inserm Orphanet
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Attribution Inserm Orphanet
Hereditary thrombocytopenia with early-onset myelofibrosis en Attribution Inserm Orphanet

Start Previous Page 13 of 27 Next End

Reference Sets

Reference set descriptor

GB English

US English

Back to Start