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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)

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
Distal arthrogryposis type 5 (disorder) en Attribution Inserm Orphanet
Distal hereditary motor neuropathy type 2 (disorder) en Attribution Inserm Orphanet
Distal hereditary motor neuropathy type 5 (disorder) en Attribution Inserm Orphanet
Distal monosomy 10q syndrome (disorder) en Attribution Inserm Orphanet
Distal monosomy 1q syndrome en Attribution Inserm Orphanet
Distal monosomy 6p (disorder) en Attribution Inserm Orphanet
Distal partial deletion of long arm of chromosome 11 (disorder) en Attribution Inserm Orphanet
Distal trisomy 10q (disorder) en Attribution Inserm Orphanet
DNAJB2-related Charcot-Marie-Tooth disease type 2 en Attribution Inserm Orphanet
Dominant beta-thalassemia (disorder) en Attribution Inserm Orphanet
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Duane retraction syndrome with congenital deafness 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
Dystonia 28 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 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 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
Lelis syndrome 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
Ehlers-Danlos syndrome classic type (disorder) en Attribution Inserm Orphanet
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) en Attribution Inserm Orphanet
EMILIN-1-related connective tissue disease en Attribution Inserm Orphanet
Embryofetopathy caused by indomethacin (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 phenobarbital (disorder) en Attribution Inserm Orphanet
Borna virus encephalitis en Attribution Inserm Orphanet
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) en Attribution Inserm Orphanet
Encephalopathy due to sulfite oxidase deficiency (disorder) en Attribution Inserm Orphanet
Endemic pemphigus foliaceus (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
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
Erythrokeratodermia cardiomyopathy syndrome 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
Exstrophy epispadias complex en Attribution Inserm Orphanet
Extensive peripapillary myelinated nerve fibres of retina en Attribution Inserm Orphanet
Extramedullary conus spinal cord lipoma 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
FRAXF syndrome (disorder) en Attribution Inserm Orphanet
Facial diplegia with paresthesia (disorder) en Attribution Inserm Orphanet
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) en Attribution Inserm Orphanet
Familial advanced sleep phase syndrome (disorder) 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 calcium pyrophosphate dihydrate crystal deposition disease en Attribution Inserm Orphanet
Familial cavitary optic disc anomaly (disorder) 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 nasolacrimal duct obstruction (disorder) en Attribution Inserm Orphanet
Familial digital arthropathy and brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
Familial gastric type 1 neuroendocrine neoplasm en Attribution Inserm Orphanet
Familial gigantiform cementoma of jaw (disorder) en Attribution Inserm Orphanet
Familial hyperaldosteronism type 4 (disorder) en Attribution Inserm Orphanet
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) en Attribution Inserm Orphanet
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (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 isolated arrhythmogenic right ventricular dysplasia (disorder) en Attribution Inserm Orphanet
Familial isolated retinal arterial tortuosity (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 multinodular goiter syndrome (disorder) en Attribution Inserm Orphanet
Familial multiple discoid fibroma en Attribution Inserm Orphanet
Familial osteochondritis dissecans (disorder) en Attribution Inserm Orphanet
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) en Attribution Inserm Orphanet
Familial partial lipodystrophy type 2 (disorder) en Attribution Inserm Orphanet
Familial patent arterial duct en Attribution Inserm Orphanet
Familial progressive hyperpigmentation (disorder) 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 steroid-resistant nephrotic syndrome with adrenal insufficiency en Attribution Inserm Orphanet
Familial thyroglossal duct cyst (disorder) en Attribution Inserm Orphanet

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Reference Sets

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