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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)

5247 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
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) en Attribution Inserm Orphanet
Microcystic stromal tumour of ovary en Attribution Inserm Orphanet
Microduplication Xp11.22p11.23 syndrome (disorder) en Attribution Inserm Orphanet
Microform holoprosencephaly en Attribution Inserm Orphanet
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome en Attribution Inserm Orphanet
Microlissencephaly micromelia syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with brain and digit anomaly (disorder) en Attribution Inserm Orphanet
Microphthalmia with brain atrophy syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia with linear skin defect syndrome (disorder) en Attribution Inserm Orphanet
Microphthalmia, microtia, fetal akinesia syndrome en Attribution Inserm Orphanet
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome en Attribution Inserm Orphanet
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) en Attribution Inserm Orphanet
Microscopic polyangiitis (disorder) en Attribution Inserm Orphanet
Microspherophakia with metaphyseal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome en Attribution Inserm Orphanet
Micturition induced epilepsy (disorder) en Attribution Inserm Orphanet
Midline cleft of lower lip en Attribution Inserm Orphanet
Mild hereditary factor VIII deficiency disease (disorder) en Attribution Inserm Orphanet
Mills syndrome (disorder) en Attribution Inserm Orphanet
Mirror hands and feet co-occurrent with nasal defect (disorder) en Attribution Inserm Orphanet
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) en Attribution Inserm Orphanet
Mirror-image polydactyly en Attribution Inserm Orphanet
Mitchell syndrome en Attribution Inserm Orphanet
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) en Attribution Inserm Orphanet
Mitochondrial DNA depletion syndrome hepatocerebrorenal form en Attribution Inserm Orphanet
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) en Attribution Inserm Orphanet
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies en Attribution Inserm Orphanet
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency en Attribution Inserm Orphanet
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) en Attribution Inserm Orphanet
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency en Attribution Inserm Orphanet
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) en Attribution Inserm Orphanet
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome en Attribution Inserm Orphanet
Mitochondrial myopathy, lactic acidosis, deafness syndrome en Attribution Inserm Orphanet
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) en Attribution Inserm Orphanet
Mitochondrial pyruvate carrier deficiency en Attribution Inserm Orphanet
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) en Attribution Inserm Orphanet
Mixed cystic lymphatic malformation en Attribution Inserm Orphanet
Mixed neuroendocrine-non neuroendocrine neoplasm of pancreas (disorder) en Attribution Inserm Orphanet
Mixed phenotype acute leukemia (disorder) en Attribution Inserm Orphanet
Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) en Attribution Inserm Orphanet
Moebius syndrome (disorder) en Attribution Inserm Orphanet
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Monoclonal mast cell activation syndrome (disorder) en Attribution Inserm Orphanet
Monocytopenia with susceptibility to infections en Attribution Inserm Orphanet
Monomorphic epitheliotropic intestinal T-cell lymphoma en Attribution Inserm Orphanet
Monosomy 13q14 syndrome en Attribution Inserm Orphanet
Monosomy 13q34 syndrome (disorder) en Attribution Inserm Orphanet
Monosomy 22 syndrome (disorder) en Attribution Inserm Orphanet
Monosomy 9p en Attribution Inserm Orphanet
Monosomy 9q22.3 syndrome (disorder) en Attribution Inserm Orphanet
Morvan syndrome (disorder) en Attribution Inserm Orphanet
Mosaic Legius syndrome (disorder) en Attribution Inserm Orphanet
Mosaic genome-wide paternal uniparental disomy en Attribution Inserm Orphanet
Mosaic neurofibromatosis type 1 en Attribution Inserm Orphanet
Mosaic neurofibromatosis type 2 (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 1 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 10 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 12 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 14 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 15 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 16 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 17 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 2 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 20 syndrome (disorder) en Attribution Inserm Orphanet
Mosaic trisomy 22 syndrome en Attribution Inserm Orphanet
Mosaic trisomy 3 syndrome en Attribution Inserm Orphanet
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
Mouth and genital ulcers with inflamed cartilage syndrome (disorder) 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
Muenke syndrome 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
Multifocal tuberculosis en Attribution Inserm Orphanet
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) en Attribution Inserm Orphanet
MARCH syndrome en Attribution Inserm Orphanet
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) en Attribution Inserm Orphanet
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 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

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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