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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
Duane anomaly, myopathy, scoliosis syndrome (disorder) en Attribution Inserm Orphanet
Duane retraction syndrome with congenital deafness en Attribution Inserm Orphanet
Duplication of eyebrow and syndactyly syndrome en Attribution Inserm Orphanet
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) en Attribution Inserm Orphanet
Dysmorphism, short stature, deafness, disorder of sex development syndrome en Attribution Inserm Orphanet
Dysplasia of head of femur Meyer type (disorder) en Attribution Inserm Orphanet
Dysraphism, cleft lip and palate, limb reduction defect syndrome en Attribution Inserm Orphanet
Dyssegmental dysplasia Silverman Handmaker type (disorder) en Attribution Inserm Orphanet
Dysspondyloenchondromatosis (disorder) en Attribution Inserm Orphanet
Dystonia 16 (disorder) en Attribution Inserm Orphanet
Dystonia 28 en Attribution Inserm Orphanet
Dystrophic epidermolysis bullosa nails only (disorder) en Attribution Inserm Orphanet
EN1-related dorsoventral syndrome en Attribution Inserm Orphanet
Early onset parkinsonism and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Early-onset Lafora body disease (disorder) en Attribution Inserm Orphanet
Early-onset X-linked optic atrophy (disorder) en Attribution Inserm Orphanet
Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder) en Attribution Inserm Orphanet
Early-onset calcifying leucoencephalopathy, skeletal dysplasia en Attribution Inserm Orphanet
Early-onset epilepsy, intellectual disability, brain anomalies syndrome en Attribution Inserm Orphanet
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation en Attribution Inserm Orphanet
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) en Attribution Inserm Orphanet
Early-onset obesity, hyperphagia, severe developmental delay syndrome en Attribution Inserm Orphanet
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) en Attribution Inserm Orphanet
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) en Attribution Inserm Orphanet
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) en Attribution Inserm Orphanet
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome en Attribution Inserm Orphanet
Ectasia of left atrial appendage en Attribution Inserm Orphanet
Ectasia of right atrial appendage (disorder) en Attribution Inserm Orphanet
Ectodermal dysplasia and sensorineural deafness syndrome en Attribution Inserm Orphanet
Ectodermal dysplasia trichoodontoonychial type (disorder) en Attribution Inserm Orphanet
Lelis syndrome en Attribution Inserm Orphanet
Ectodermal dysplasia with blindness syndrome (disorder) en Attribution Inserm Orphanet
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) en Attribution Inserm Orphanet
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) en Attribution Inserm Orphanet
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) en Attribution Inserm Orphanet
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) en Attribution Inserm Orphanet
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos and osteogenesis imperfecta syndrome en Attribution Inserm Orphanet
Ehlers-Danlos syndrome cardiac valvular type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome classic type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome musculocontractural type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome progeroid type (disorder) en Attribution Inserm Orphanet
Eiken syndrome (disorder) en Attribution Inserm Orphanet
EMILIN-1-related connective tissue disease en Attribution Inserm Orphanet
Embryofetopathy caused by indomethacin (disorder) en Attribution Inserm Orphanet
Embryofetopathy caused by methimazole (disorder) en Attribution Inserm Orphanet
Embryonal neoplasm with multilayered rosettes en Attribution Inserm Orphanet
Embryopathy caused by isotretinoin (disorder) en Attribution Inserm Orphanet
Embryopathy caused by mycophenolate mofetil (disorder) en Attribution Inserm Orphanet
Embryopathy caused by phenobarbital (disorder) en Attribution Inserm Orphanet
Embryopathy caused by retinoid (disorder) en Attribution Inserm Orphanet
Borna virus encephalitis en Attribution Inserm Orphanet
Mycoplasma pneumoniae encephalitis en Attribution Inserm Orphanet
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) en Attribution Inserm Orphanet
Encephalopathy due to prosaposin deficiency (disorder) en Attribution Inserm Orphanet
Encephalopathy due to sulfite oxidase deficiency (disorder) en Attribution Inserm Orphanet
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome en Attribution Inserm Orphanet
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) en Attribution Inserm Orphanet
Encircling double aortic arch en Attribution Inserm Orphanet
Endemic pemphigus foliaceus (disorder) en Attribution Inserm Orphanet
Endocrine-cerebro-osteodysplasia syndrome (disorder) en Attribution Inserm Orphanet
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) en Attribution Inserm Orphanet
Enlarged parietal foramina (disorder) en Attribution Inserm Orphanet
Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) en Attribution Inserm Orphanet
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) en Attribution Inserm Orphanet
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) en Attribution Inserm Orphanet
Epidermolysis bullosa simplex with pyloric atresia en Attribution Inserm Orphanet
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) en Attribution Inserm Orphanet
Epidermolysis bullosa simplex with circinate migratory erythema (disorder) en Attribution Inserm Orphanet
Epidermolysis bullosa simplex with muscular dystrophy (disorder) en Attribution Inserm Orphanet
Epilepsy telangiectasia syndrome (disorder) en Attribution Inserm Orphanet
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Epileptic encephalopathy with global cerebral demyelination (disorder) en Attribution Inserm Orphanet
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) en Attribution Inserm Orphanet
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) en Attribution Inserm Orphanet
Episodic ataxia type 3 (disorder) en Attribution Inserm Orphanet
Episodic ataxia type 4 (disorder) en Attribution Inserm Orphanet
Episodic ataxia type 5 (disorder) en Attribution Inserm Orphanet
Episodic ataxia type 6 (disorder) en Attribution Inserm Orphanet
Episodic ataxia type 7 (disorder) en Attribution Inserm Orphanet
Epithelial recurrent erosion dystrophy of cornea (disorder) en Attribution Inserm Orphanet
Epstein-Barr virus positive diffuse large B-cell lymphoma of elderly (disorder) en Attribution Inserm Orphanet
Erythema palmare hereditarium en Attribution Inserm Orphanet
Erythrokeratodermia cardiomyopathy syndrome en Attribution Inserm Orphanet
Ethylmalonic encephalopathy (disorder) en Attribution Inserm Orphanet
Euthyroid Graves orbitopathy en Attribution Inserm Orphanet
Exercise-induced hyperinsulinism (disorder) en Attribution Inserm Orphanet
Exercise-induced malignant hyperthermia (disorder) en Attribution Inserm Orphanet
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) en Attribution Inserm Orphanet
Exstrophy epispadias complex en Attribution Inserm Orphanet
Extensive peripapillary myelinated nerve fibres of retina en Attribution Inserm Orphanet
Extragonadal teratoma en Attribution Inserm Orphanet
Extramedullary conus spinal cord lipoma en Attribution Inserm Orphanet
Extraneural perineurioma en Attribution Inserm Orphanet
Extraovarian primary peritoneal carcinoma (disorder) en Attribution Inserm Orphanet
Extraventricular neurocytoma (disorder) en Attribution Inserm Orphanet
FG syndrome type 1 (disorder) en Attribution Inserm Orphanet
FRAXE intellectual disability syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

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