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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
Extraventricular neurocytoma (disorder) en Attribution Inserm Orphanet
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) en Attribution Inserm Orphanet
FG syndrome type 1 (disorder) en Attribution Inserm Orphanet
FRAXE intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
FRAXF syndrome (disorder) en Attribution Inserm Orphanet
Facial diplegia with paresthesia (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, cleft palate, loose skin syndrome en Attribution Inserm Orphanet
Facial dysmorphism, conductive hearing loss, heart defect syndrome en Attribution Inserm Orphanet
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome en Attribution Inserm Orphanet
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) en Attribution Inserm Orphanet
Facial onset sensory and motor neuronopathy syndrome (disorder) en Attribution Inserm Orphanet
Faciocardiorenal syndrome (disorder) en Attribution Inserm Orphanet
Factor V short isoforms related bleeding disorder (disorder) en Attribution Inserm Orphanet
Fallot complex with intellectual disability and growth delay syndrome en Attribution Inserm Orphanet
Familial Alzheimer-like prion disease (disorder) en Attribution Inserm Orphanet
Familial acute necrotizing encephalopathy (disorder) en Attribution Inserm Orphanet
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) en Attribution Inserm Orphanet
Familial advanced sleep phase syndrome (disorder) en Attribution Inserm Orphanet
Familial angiolipomatosis en Attribution Inserm Orphanet
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease en Attribution Inserm Orphanet
Familial avascular necrosis of head of femur (disorder) en Attribution Inserm Orphanet
Familial benign copper deficiency en Attribution Inserm Orphanet
Familial benign flecked retina en Attribution Inserm Orphanet
Familial bicuspid aortic valve (disorder) en Attribution Inserm Orphanet
Familial calcium pyrophosphate dihydrate crystal deposition disease en Attribution Inserm Orphanet
Familial caudal dysgenesis (disorder) en Attribution Inserm Orphanet
Familial cavitary optic disc anomaly (disorder) en Attribution Inserm Orphanet
Familial cerebral saccular aneurysm (disorder) en Attribution Inserm Orphanet
Familial cervical artery dissection en Attribution Inserm Orphanet
Familial chilblain lupus erythematosus (disorder) en Attribution Inserm Orphanet
Familial chylomicronemia syndrome (disorder) en Attribution Inserm Orphanet
Familial colorectal cancer type X (disorder) en Attribution Inserm Orphanet
Familial congenital mirror movements en Attribution Inserm Orphanet
Familial congenital nasolacrimal duct obstruction (disorder) en Attribution Inserm Orphanet
Familial congenital palsy of trochlear nerve (disorder) en Attribution Inserm Orphanet
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) en Attribution Inserm Orphanet
Familial dementia British type (disorder) en Attribution Inserm Orphanet
ADan amyloidosis en Attribution Inserm Orphanet
Familial developmental dysphasia (disorder) en Attribution Inserm Orphanet
Familial digital arthropathy and brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation en Attribution Inserm Orphanet
Familial dyskinesia and facial myokymia (disorder) en Attribution Inserm Orphanet
Familial epilepsy with auditory features en Attribution Inserm Orphanet
Familial episodic pain syndrome en Attribution Inserm Orphanet
Familial focal epilepsy with variable foci en Attribution Inserm Orphanet
Familial gastric type 1 neuroendocrine neoplasm en Attribution Inserm Orphanet
Familial generalised lentiginosis en Attribution Inserm Orphanet
Familial gigantiform cementoma of jaw (disorder) en Attribution Inserm Orphanet
Familial glucocorticoid deficiency (disorder) en Attribution Inserm Orphanet
Familial hyperaldosteronism type 4 (disorder) en Attribution Inserm Orphanet
Familial hypercholanemia (disorder) en Attribution Inserm Orphanet
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) en Attribution Inserm Orphanet
Familial hyperprolactinemia en Attribution Inserm Orphanet
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) en Attribution Inserm Orphanet
Familial hypertryptophanemia (disorder) en Attribution Inserm Orphanet
Familial idiopathic dilatation of right atrium (disorder) en Attribution Inserm Orphanet
Familial infantile bilateral striatal necrosis en Attribution Inserm Orphanet
Familial infantile gigantism (disorder) en Attribution Inserm Orphanet
Familial infantile myoclonic epilepsy en Attribution Inserm Orphanet
Familial isolated arrhythmogenic right ventricular dysplasia (disorder) en Attribution Inserm Orphanet
Familial isolated clinodactyly of finger (disorder) en Attribution Inserm Orphanet
Familial isolated congenital asplenia (disorder) en Attribution Inserm Orphanet
Familial isolated hyperparathyroidism (disorder) en Attribution Inserm Orphanet
Familial isolated hypoparathyroidism (disorder) en Attribution Inserm Orphanet
Familial isolated retinal arterial tortuosity (disorder) en Attribution Inserm Orphanet
Familial isolated trichomegaly en Attribution Inserm Orphanet
Familial juvenile hypertrophy of breast (disorder) en Attribution Inserm Orphanet
Familial long QT syndrome en Attribution Inserm Orphanet
Familial male-limited precocious puberty (disorder) en Attribution Inserm Orphanet
Familial malignant melanoma of skin (disorder) en Attribution Inserm Orphanet
Familial malignant neoplasm of prostate (disorder) en Attribution Inserm Orphanet
Familial median cleft of upper and lower lip (disorder) en Attribution Inserm Orphanet
Familial mesial temporal lobe epilepsy en Attribution Inserm Orphanet
Familial mesial temporal lobe epilepsy with febrile seizures en Attribution Inserm Orphanet
Familial multinodular goiter syndrome (disorder) en Attribution Inserm Orphanet
Familial multiple benign meningioma (disorder) en Attribution Inserm Orphanet
Familial multiple discoid fibroma en Attribution Inserm Orphanet
Familial multiple lipomatosis (disorder) en Attribution Inserm Orphanet
Familial multiple nevi flammei (disorder) en Attribution Inserm Orphanet
Familial cortical myoclonus en Attribution Inserm Orphanet
Familial nasal acilia (disorder) en Attribution Inserm Orphanet
Familial nonmedullary primary thyroid carcinoma (disorder) en Attribution Inserm Orphanet
Familial omphalocele syndrome with facial dysmorphism (disorder) en Attribution Inserm Orphanet
Familial osteochondritis dissecans (disorder) en Attribution Inserm Orphanet
Familial osteodysplasia Anderson type (disorder) en Attribution Inserm Orphanet
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) en Attribution Inserm Orphanet
Familial partial lipodystrophy Kobberling type (disorder) en Attribution Inserm Orphanet
Familial partial lipodystrophy type 2 (disorder) en Attribution Inserm Orphanet
Familial patent arterial duct en Attribution Inserm Orphanet
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) en Attribution Inserm Orphanet
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) en Attribution Inserm Orphanet
Familial progressive hyperpigmentation (disorder) en Attribution Inserm Orphanet
Familial progressive hyper and hypopigmentation en Attribution Inserm Orphanet
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) en Attribution Inserm Orphanet
Familial pseudohyperkalemia (disorder) en Attribution Inserm Orphanet
Familial recurrent peripheral facial palsy en Attribution Inserm Orphanet
Familial scaphocephaly syndrome McGillivray type (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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