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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
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
Fibrothecoma of ovary en Attribution Inserm Orphanet
Fibular dimelia diplopodia syndrome (disorder) 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
Filippi syndrome (disorder) en Attribution Inserm Orphanet
Fine Lubinsky syndrome (disorder) en Attribution Inserm Orphanet
Finnish upper limb onset distal myopathy en Attribution Inserm Orphanet
Florid cemento-osseous dysplasia (disorder) en Attribution Inserm Orphanet
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) en Attribution Inserm Orphanet
Focal palmoplantar and gingival keratoderma en Attribution Inserm Orphanet
Foix Chavany Marie syndrome (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
Frank-Ter Haar syndrome (disorder) 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 with alopecia and genital anomaly 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
Fuhrmann syndrome (disorder) en Attribution Inserm Orphanet
Full schwannomatosis en Attribution Inserm Orphanet
Fundus albipunctatus en Attribution Inserm Orphanet
Fundus pulverulentus (disorder) 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
Galloway Mowat syndrome (disorder) en Attribution Inserm Orphanet
Ganglioside GM3 synthase deficiency (disorder) en Attribution Inserm Orphanet
GJC2-related late-onset primary lymphedema en Attribution Inserm Orphanet
Generalized basaloid follicular hamartoma syndrome (disorder) 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 hyperferritinemia without iron overload 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
Genetic transient congenital hypothyroidism (disorder) en Attribution Inserm Orphanet
Genochondromatosis type 2 (disorder) en Attribution Inserm Orphanet
German syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis and hypertrichosis syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis with facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Gingival fibromatosis with progressive deafness syndrome (disorder) en Attribution Inserm Orphanet
Glaucoma and sleep apnea syndrome (disorder) en Attribution Inserm Orphanet
Glaucoma, ectopia, microspherophakia, stiff joint, short stature 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
Gomez Lopez Hernandez 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
Grant syndrome 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 due to insulin-like growth factor type 1 deficiency (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
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Attribution Inserm Orphanet
Grubben, De Cock, Borghgraef syndrome en Attribution Inserm Orphanet
Guillain-Barré syndrome acute inflammatory demyelinating polyradiculoneuropathic form (disorder) en Attribution Inserm Orphanet
Haddad syndrome (disorder) en Attribution Inserm Orphanet
Haim Munk syndrome (disorder) en Attribution Inserm Orphanet
Hall Riggs syndrome (disorder) en Attribution Inserm Orphanet
Hallermann Streiff like syndrome en Attribution Inserm Orphanet
Tungland Bellman syndrome en Attribution Inserm Orphanet
Heart defect and limb shortening syndrome (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome Slovenian type (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome type 2 (disorder) en Attribution Inserm Orphanet
Heart-hand syndrome type 3 (disorder) en Attribution Inserm Orphanet
Helicoid peripapillary chorioretinal degeneration (disorder) en Attribution Inserm Orphanet
Heme oxygenase-1 deficiency (disorder) en Attribution Inserm Orphanet
Hemidystonia hemiatrophy syndrome (disorder) en Attribution Inserm Orphanet
Hemifacial hyperplasia strabismus syndrome en Attribution Inserm Orphanet
Hemifacial microsomia with radial defect syndrome (disorder) en Attribution Inserm Orphanet
Hemiparkinsonism hemiatrophy syndrome (disorder) en Attribution Inserm Orphanet
Hemochromatosis type 3 (disorder) en Attribution Inserm Orphanet
Hemolytic anemia due to adenylate kinase 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

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Reference Sets

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