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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
Intellectual disability, cupped ears syndrome en Attribution Inserm Orphanet
Intellectual disability, developmental delay, contracture syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, early-onset cataract, microcephaly syndrome en Attribution Inserm Orphanet
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, epilepsy, extrapyramidal syndrome en Attribution Inserm Orphanet
MEHMO syndrome en Attribution Inserm Orphanet
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome en Attribution Inserm Orphanet
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, myopathy, short stature, endocrine defect syndrome en Attribution Inserm Orphanet
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, polydactyly, uncombable hair syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome en Attribution Inserm Orphanet
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) en Attribution Inserm Orphanet
Intellectual disability, spasticity, ectrodactyly syndrome en Attribution Inserm Orphanet
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) en Attribution Inserm Orphanet
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome en Attribution Inserm Orphanet
Interleukin 21 related infantile inflammatory bowel disease (disorder) en Attribution Inserm Orphanet
Intermediate collagen VI-related muscular dystrophy (disorder) en Attribution Inserm Orphanet
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) en Attribution Inserm Orphanet
Intermediate nemaline myopathy en Attribution Inserm Orphanet
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) en Attribution Inserm Orphanet
Interstitial lung disease due to surfactant protein C deficiency (disorder) en Attribution Inserm Orphanet
Intestinal malabsorption due to bile acid synthesis defect (disorder) en Attribution Inserm Orphanet
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency en Attribution Inserm Orphanet
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) en Attribution Inserm Orphanet
Intraductal tubulopapillary malignant neoplasm of pancreas (disorder) en Attribution Inserm Orphanet
Intraneural perineurioma en Attribution Inserm Orphanet
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) en Attribution Inserm Orphanet
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome en Attribution Inserm Orphanet
Intravascular large B-cell lymphoma (disorder) en Attribution Inserm Orphanet
Invasive non-typhoidal salmonellosis (disorder) en Attribution Inserm Orphanet
Inverse Klippel Trénaunay syndrome (disorder) en Attribution Inserm Orphanet
Iron-refractory iron deficiency anemia (disorder) en Attribution Inserm Orphanet
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) en Attribution Inserm Orphanet
Isochromosomy Yp en Attribution Inserm Orphanet
Isochromosomy Yq (disorder) en Attribution Inserm Orphanet
Isodicentric chromosome 15 syndrome (disorder) en Attribution Inserm Orphanet
Isolated agammaglobulinaemia en Attribution Inserm Orphanet
Isolated agenesis of cerebellar vermis (disorder) en Attribution Inserm Orphanet
Isolated anterior cervical hypertrichosis (disorder) en Attribution Inserm Orphanet
Isolated aplasia of optic nerve (disorder) en Attribution Inserm Orphanet
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) en Attribution Inserm Orphanet
Isolated blepharochalasis (disorder) en Attribution Inserm Orphanet
Isolated bone marrow mastocytosis (disorder) en Attribution Inserm Orphanet
Isolated cleft lip (disorder) en Attribution Inserm Orphanet
Isolated congenital adermatoglyphia en Attribution Inserm Orphanet
Isolated congenital alacrima (disorder) en Attribution Inserm Orphanet
Isolated congenital distichiasis (disorder) en Attribution Inserm Orphanet
Isolated congenital megalocornea (disorder) en Attribution Inserm Orphanet
Isolated congenital syngnathia (disorder) en Attribution Inserm Orphanet
Isolated cryptophthalmos (disorder) en Attribution Inserm Orphanet
Isolated cytochrome C oxidase deficiency (disorder) en Attribution Inserm Orphanet
Isolated encephalocele en Attribution Inserm Orphanet
Isolated focal cortical dysplasia (disorder) en Attribution Inserm Orphanet
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) en Attribution Inserm Orphanet
Isolated generalized anhidrosis with normal sweat glands en Attribution Inserm Orphanet
Isolated hereditary congenital facial paralysis (disorder) en Attribution Inserm Orphanet
Isolated cerebellar vermis hypoplasia en Attribution Inserm Orphanet
Isolated hypoplasia of fovea centralis (disorder) en Attribution Inserm Orphanet
Isolated hypoplasia of optic nerve (disorder) en Attribution Inserm Orphanet
Isolated lipoma of filum terminale (disorder) en Attribution Inserm Orphanet
Isolated microspherophakia (disorder) en Attribution Inserm Orphanet
Isolated neonatal sclerosing cholangitis (disorder) en Attribution Inserm Orphanet
Isolated osteopoikilosis (disorder) en Attribution Inserm Orphanet
Isolated polycystic liver disease (disorder) en Attribution Inserm Orphanet
Isolated primary pigmented nodular adrenocortical disease (disorder) en Attribution Inserm Orphanet
Isolated right ventricular hypoplasia (disorder) en Attribution Inserm Orphanet
Isolated sternocostoclavicular hyperostosis en Attribution Inserm Orphanet
Isolated transitional lipoma of filum terminale (disorder) en Attribution Inserm Orphanet
Isolated unilateral hemispheric cerebellar hypoplasia (disorder) en Attribution Inserm Orphanet
Isotretinoin embryopathy-like syndrome (disorder) en Attribution Inserm Orphanet
Jansen-de Vries syndrome (disorder) en Attribution Inserm Orphanet
Johnson neuroectodermal syndrome (disorder) en Attribution Inserm Orphanet
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) en Attribution Inserm Orphanet
Joubert syndrome (disorder) en Attribution Inserm Orphanet
Joubert syndrome with Jeune asphyxiating thoracic dystrophy en Attribution Inserm Orphanet
Joubert syndrome with congenital hepatic fibrosis (disorder) en Attribution Inserm Orphanet
Joubert syndrome with ocular defect (disorder) en Attribution Inserm Orphanet
Joubert syndrome with oculorenal defect (disorder) en Attribution Inserm Orphanet
Joubert syndrome with orofaciodigital defect (disorder) en Attribution Inserm Orphanet
Joubert syndrome with renal defect (disorder) en Attribution Inserm Orphanet
Juberg Hayward syndrome (disorder) en Attribution Inserm Orphanet
Juvenile amyotrophic lateral sclerosis (disorder) en Attribution Inserm Orphanet
Juvenile angiofibroma of nasopharynx (disorder) en Attribution Inserm Orphanet
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) en Attribution Inserm Orphanet
Juvenile overlap myositis (disorder) en Attribution Inserm Orphanet
Juvenile polymyositis (disorder) en Attribution Inserm Orphanet
Juvenile primary lateral sclerosis (disorder) en Attribution Inserm Orphanet
Juvenile temporal arteritis (disorder) en Attribution Inserm Orphanet
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) en Attribution Inserm Orphanet
Kagami Ogata syndrome en Attribution Inserm Orphanet
Kallman syndrome with heart disease (disorder) en Attribution Inserm Orphanet
Kandori fleck retina syndrome en Attribution Inserm Orphanet
Kaposiform lymphangiomatosis (disorder) en Attribution Inserm Orphanet
Kapur Toriello syndrome (disorder) en Attribution Inserm Orphanet
Karsch Neugebauer syndrome en Attribution Inserm Orphanet
Keipert syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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