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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
Mosaic trisomy 4 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 5 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 7 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 8 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 9 syndrome en Attribution Inserm Orphanet
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Moyamoya disease with early onset achalasia (disorder) en Attribution Inserm Orphanet
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) en Attribution Inserm Orphanet
Mucolipidosis type IV (disorder) en Attribution Inserm Orphanet
Mucopolysaccharidosis-like plus disease en Attribution Inserm Orphanet
Mueller Weiss syndrome (disorder) en Attribution Inserm Orphanet
Mullerian duct and limb anomalies syndrome (disorder) en Attribution Inserm Orphanet
Multicentric carpotarsal osteolysis syndrome en Attribution Inserm Orphanet
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) en Attribution Inserm Orphanet
Multicystic renal dysplasia en Attribution Inserm Orphanet
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome en Attribution Inserm Orphanet
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) en Attribution Inserm Orphanet
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) en Attribution Inserm Orphanet
MARCH syndrome en Attribution Inserm Orphanet
Multiple endocrine neoplasia type 4 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia Al-Gazali type (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia Lowry type (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia due to collagen 9 anomaly en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 1 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 4 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia type 5 (disorder) en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia with miniepiphyses en Attribution Inserm Orphanet
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 1 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 3 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 4 en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) en Attribution Inserm Orphanet
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) en Attribution Inserm Orphanet
Multiple osteochondroma of long bone (disorder) en Attribution Inserm Orphanet
Multiple paraganglioma associated with polycythaemia en Attribution Inserm Orphanet
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome en Attribution Inserm Orphanet
Muscle and heart glycogen synthase deficiency (disorder) en Attribution Inserm Orphanet
Muscle filaminopathy en Attribution Inserm Orphanet
Muscular dystrophy Selcen type (disorder) en Attribution Inserm Orphanet
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) en Attribution Inserm Orphanet
Myelic limited dorsal malformation (disorder) en Attribution Inserm Orphanet
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) en Attribution Inserm Orphanet
Radiation myelitis en Attribution Inserm Orphanet
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) en Attribution Inserm Orphanet
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement (disorder) en Attribution Inserm Orphanet
Myoclonus, cerebellar ataxia, deafness syndrome en Attribution Inserm Orphanet
Myopathic Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) en Attribution Inserm Orphanet
Myopathy with hexagonally cross-linked tubular arrays en Attribution Inserm Orphanet
Myopericytoma en Attribution Inserm Orphanet
Myosclerosis (disorder) en Attribution Inserm Orphanet
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) en Attribution Inserm Orphanet
MYH9 related disease en Attribution Inserm Orphanet
Myotonia congenita (disorder) en Attribution Inserm Orphanet
Myotonia fluctuans (disorder) en Attribution Inserm Orphanet
Myotonia permanens (disorder) en Attribution Inserm Orphanet
Myxopapillary ependymoma of spinal cord (disorder) en Attribution Inserm Orphanet
N syndrome (disorder) en Attribution Inserm Orphanet
N-glycanase 1 congenital disorder of deglycosylation (disorder) en Attribution Inserm Orphanet
NAD(P)HX dehydratase deficiency (disorder) en Attribution Inserm Orphanet
NAD(P)HX epimerase deficiency (disorder) en Attribution Inserm Orphanet
NEK9-related lethal skeletal dysplasia en Attribution Inserm Orphanet
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Attribution Inserm Orphanet
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) en Attribution Inserm Orphanet
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome en Attribution Inserm Orphanet
Nanophthalmia (disorder) en Attribution Inserm Orphanet
Nasopalpebral lipoma coloboma syndrome (disorder) en Attribution Inserm Orphanet
Native American myopathy en Attribution Inserm Orphanet
Natural killer cell enteropathy (disorder) en Attribution Inserm Orphanet
Necrotising pneumonia caused by Panton-Valentine leukocidin producing Staphylococcus aureus en Attribution Inserm Orphanet
Neonatal Marfan syndrome en Attribution Inserm Orphanet
Neonatal brainstem dysfunction en Attribution Inserm Orphanet
Neonatal compartment syndrome en Attribution Inserm Orphanet
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) en Attribution Inserm Orphanet
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) en Attribution Inserm Orphanet
Neonatal epileptic encephalopathy due to glutaminase deficiency en Attribution Inserm Orphanet
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) en Attribution Inserm Orphanet
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) en Attribution Inserm Orphanet
Neonatal severe primary hyperparathyroidism (disorder) en Attribution Inserm Orphanet
Nephrogenic syndrome of inappropriate antidiuresis (disorder) en Attribution Inserm Orphanet
Nephronophthisis hepatic fibrosis syndrome (disorder) en Attribution Inserm Orphanet
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) en Attribution Inserm Orphanet
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) en Attribution Inserm Orphanet
Neuhauser Eichner Opitz syndrome (disorder) en Attribution Inserm Orphanet
Neuhauser anomaly en Attribution Inserm Orphanet
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) en Attribution Inserm Orphanet
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) en Attribution Inserm Orphanet
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome en Attribution Inserm Orphanet
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome en Attribution Inserm Orphanet
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) en Attribution Inserm Orphanet
Neuroectodermal melanolysosomal disease (disorder) en Attribution Inserm Orphanet
Neuroendocrine carcinoma of thymus (disorder) en Attribution Inserm Orphanet
Neuroendocrine neoplasm of colon (disorder) en Attribution Inserm Orphanet
Neurofaciodigitorenal syndrome (disorder) en Attribution Inserm Orphanet
Neurofibromatosis Noonan syndrome (disorder) en Attribution Inserm Orphanet
Neurofibromatosis type 6 en Attribution Inserm Orphanet
Neurogenic arthrogryposis multiplex congenita (disorder) en Attribution Inserm Orphanet
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) en Attribution Inserm Orphanet
Neurolymphomatosis en Attribution Inserm Orphanet

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