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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
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Livedo reticularis and cerebrovascular accident syndrome (disorder) en Attribution Inserm Orphanet
Liver adenomatosis en Attribution Inserm Orphanet
Logopenic progressive aphasia (disorder) en Attribution Inserm Orphanet
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) en Attribution Inserm Orphanet
Long thumb brachydactyly syndrome en Attribution Inserm Orphanet
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) en Attribution Inserm Orphanet
Low phospholipid associated cholelithiasis (disorder) en Attribution Inserm Orphanet
Lower limb malformation hypospadias syndrome en Attribution Inserm Orphanet
Lowry MacLean syndrome (disorder) en Attribution Inserm Orphanet
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) en Attribution Inserm Orphanet
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) en Attribution Inserm Orphanet
Luscan Lumish syndrome en Attribution Inserm Orphanet
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema hypoparathyroidism syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema, atrial septal defect, facial changes syndrome (disorder) en Attribution Inserm Orphanet
Lymphedema, posterior choanal atresia syndrome (disorder) en Attribution Inserm Orphanet
Lymphoplasmacytic lymphoma without immunoglobulin M production (disorder) en Attribution Inserm Orphanet
Lymphoproliferative disorder caused by methotrexate en Attribution Inserm Orphanet
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) en Attribution Inserm Orphanet
MAGE family member L2-related Prader-Willi-like syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly and developmental delay syndrome en Attribution Inserm Orphanet
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome en Attribution Inserm Orphanet
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) en Attribution Inserm Orphanet
Macrocephaly, short stature, paraplegia syndrome (disorder) en Attribution Inserm Orphanet
Macrophagic myofasciitis (disorder) en Attribution Inserm Orphanet
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) en Attribution Inserm Orphanet
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome en Attribution Inserm Orphanet
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) en Attribution Inserm Orphanet
Maculopapular cutaneous mastocytosis (disorder) en Attribution Inserm Orphanet
Malakoplakia (disorder) en Attribution Inserm Orphanet
Malan overgrowth syndrome en Attribution Inserm Orphanet
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Male infertility with teratozoospermia due to single gene mutation (disorder) en Attribution Inserm Orphanet
Malignancy diagnosed during pregnancy (disorder) en Attribution Inserm Orphanet
Malignant germ cell neoplasm of vagina (disorder) en Attribution Inserm Orphanet
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) en Attribution Inserm Orphanet
Malignant non-dysgerminomatous germ cell tumor of ovary en Attribution Inserm Orphanet
Mammary digital nail syndrome (disorder) en Attribution Inserm Orphanet
Mandibulofacial dysostosis with alopecia en Attribution Inserm Orphanet
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Marburg acute multiple sclerosis en Attribution Inserm Orphanet
Marfanoid habitus with autosomal recessive intellectual disability syndrome en Attribution Inserm Orphanet
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome en Attribution Inserm Orphanet
Marfanoid syndrome De Silva type (disorder) en Attribution Inserm Orphanet
Martinique crinkled retinal pigment epitheliopathy en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 1 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 13 en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 2 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 20 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 4 en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 6 (disorder) en Attribution Inserm Orphanet
Maternal uniparental disomy of chromosome 9 en Attribution Inserm Orphanet
Maternally inherited Leigh syndrome (disorder) en Attribution Inserm Orphanet
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Maternally inherited mitochondrial dystonia (disorder) en Attribution Inserm Orphanet
Matthew Wood syndrome en Attribution Inserm Orphanet
Maxillonasal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Mayer Rokitansky Küster Hauser syndrome (disorder) en Attribution Inserm Orphanet
McCune Albright syndrome (disorder) en Attribution Inserm Orphanet
McDonough syndrome (disorder) en Attribution Inserm Orphanet
McLeod neuroacanthocytosis syndrome (disorder) en Attribution Inserm Orphanet
Meacham syndrome (disorder) en Attribution Inserm Orphanet
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) en Attribution Inserm Orphanet
Median nodule of upper lip (disorder) en Attribution Inserm Orphanet
Medich giant platelet syndrome (disorder) en Attribution Inserm Orphanet
Megaconial congenital muscular dystrophy en Attribution Inserm Orphanet
Megakaryoblastic acute myeloid leukaemia with t(1;22)(p13;q13) en Attribution Inserm Orphanet
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) en Attribution Inserm Orphanet
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome en Attribution Inserm Orphanet
Megalocornea with intellectual disability syndrome en Attribution Inserm Orphanet
Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) en Attribution Inserm Orphanet
Melanoma and neural system tumour syndrome en Attribution Inserm Orphanet
Melhem Fahl syndrome (disorder) en Attribution Inserm Orphanet
Melorheostosis with osteopoikilosis en Attribution Inserm Orphanet
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) en Attribution Inserm Orphanet
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) en Attribution Inserm Orphanet
Meningioma of uncertain behavior (disorder) en Attribution Inserm Orphanet
Menke Hennekam syndrome en Attribution Inserm Orphanet
Menstrual cycle dependent periodic fever (disorder) en Attribution Inserm Orphanet
Mesenchymal hamartoma of liver (disorder) en Attribution Inserm Orphanet
Mesial temporal lobe epilepsy with hippocampal sclerosis en Attribution Inserm Orphanet
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia Kantaputra type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia Savarirayan type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Attribution Inserm Orphanet
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) en Attribution Inserm Orphanet
Metabolic myopathy due to lactate transporter defect en Attribution Inserm Orphanet
Metaphyseal chondrodysplasia Kaitila type (disorder) en Attribution Inserm Orphanet
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) en Attribution Inserm Orphanet
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome en Attribution Inserm Orphanet

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Reference Sets

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