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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
Congenital short bowel syndrome (disorder) en Attribution Inserm Orphanet
Congenital short costocoracoid ligament (disorder) en Attribution Inserm Orphanet
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome en Attribution Inserm Orphanet
Congenital spinal dermal sinus (disorder) en Attribution Inserm Orphanet
Congenital stenosis of cervical spinal canal (disorder) en Attribution Inserm Orphanet
Congenital straddling and overriding tricuspid valve (disorder) en Attribution Inserm Orphanet
Congenital suprabulbar paresis (disorder) en Attribution Inserm Orphanet
Congenital trigeminal anesthesia (disorder) en Attribution Inserm Orphanet
Congenital tubular duplication of esophagus (disorder) en Attribution Inserm Orphanet
Isolated asymmetric crying facies en Attribution Inserm Orphanet
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) en Attribution Inserm Orphanet
Connective tissue disorder due to lysyl hydroxylase-3 deficiency en Attribution Inserm Orphanet
Cono-spondylar dysplasia (disorder) en Attribution Inserm Orphanet
Constitutional mismatch repair deficiency syndrome (disorder) en Attribution Inserm Orphanet
Constriction ring syndrome (disorder) en Attribution Inserm Orphanet
CNTNAP2-related developmental and epileptic encephalopathy en Attribution Inserm Orphanet
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) en Attribution Inserm Orphanet
Cooks syndrome (disorder) en Attribution Inserm Orphanet
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Corticobasal syndrome (disorder) en Attribution Inserm Orphanet
Corticosteroid sensitive aseptic abscess syndrome (disorder) en Attribution Inserm Orphanet
Coxoauricular syndrome (disorder) en Attribution Inserm Orphanet
Coxopodopatellar syndrome (disorder) en Attribution Inserm Orphanet
Crane Heise syndrome (disorder) en Attribution Inserm Orphanet
3C syndrome en Attribution Inserm Orphanet
Craniodigital syndrome and intellectual disability syndrome en Attribution Inserm Orphanet
Craniofacial conodysplasia syndrome (disorder) en Attribution Inserm Orphanet
Harrod syndrome en Attribution Inserm Orphanet
Temtamy syndrome en Attribution Inserm Orphanet
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Craniofacial dyssynostosis syndrome (disorder) en Attribution Inserm Orphanet
Craniofacial ulnar renal syndrome (disorder) en Attribution Inserm Orphanet
Craniofaciofrontodigital syndrome (disorder) en Attribution Inserm Orphanet
Craniofrontonasal dysplasia (disorder) en Attribution Inserm Orphanet
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) en Attribution Inserm Orphanet
Craniolenticulosutural dysplasia (disorder) en Attribution Inserm Orphanet
Craniometadiaphyseal dysplasia wormian bone type (disorder) en Attribution Inserm Orphanet
Craniomicromelic syndrome (disorder) en Attribution Inserm Orphanet
Cranioosteoarthropathy (disorder) en Attribution Inserm Orphanet
Craniosynostosis Boston type (disorder) en Attribution Inserm Orphanet
Craniosynostosis Herrmann Opitz type (disorder) en Attribution Inserm Orphanet
Craniosynostosis Philadelphia type (disorder) en Attribution Inserm Orphanet
Craniosynostosis and intracranial calcification syndrome (disorder) en Attribution Inserm Orphanet
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) en Attribution Inserm Orphanet
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) en Attribution Inserm Orphanet
Craniosynostosis, microretrognathia, severe intellectual disability syndrome en Attribution Inserm Orphanet
Craniotelencephalic dysplasia (disorder) en Attribution Inserm Orphanet
Crisponi syndrome (disorder) en Attribution Inserm Orphanet
Crossed polysyndactyly (disorder) en Attribution Inserm Orphanet
Cryptomicrotia brachydactyly syndrome (disorder) en Attribution Inserm Orphanet
Cryptorchidism, arachnodactyly, intellectual disability syndrome en Attribution Inserm Orphanet
Curly hair, acral keratoderma, caries syndrome (disorder) en Attribution Inserm Orphanet
Curry Jones syndrome en Attribution Inserm Orphanet
Cushing syndrome due to cortisol-producing adrenocortical adenoma (disorder) en Attribution Inserm Orphanet
Cutaneous collagenous vasculopathy (disorder) en Attribution Inserm Orphanet
Cutaneous leukocytoclastic angiitis (disorder) en Attribution Inserm Orphanet
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Cutaneous photosensitivity and lethal colitis syndrome (disorder) en Attribution Inserm Orphanet
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome en Attribution Inserm Orphanet
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Cylindrical spirals myopathy (disorder) en Attribution Inserm Orphanet
Cyprus facial neuromusculoskeletal syndrome (disorder) en Attribution Inserm Orphanet
Cystadenoma of ovary in childhood (disorder) en Attribution Inserm Orphanet
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) en Attribution Inserm Orphanet
Cystic leukoencephalopathy without megalencephaly (disorder) en Attribution Inserm Orphanet
Cystic mesothelioma of peritoneum (disorder) en Attribution Inserm Orphanet
Cytokine release syndrome due to chimeric antigen receptor T-cell immunotherapy (disorder) en Attribution Inserm Orphanet
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) en Attribution Inserm Orphanet
Czech dysplasia metatarsal type (disorder) en Attribution Inserm Orphanet
DDX41-related hematologic malignancy predisposition syndrome en Attribution Inserm Orphanet
DK phocomelia syndrome (disorder) en Attribution Inserm Orphanet
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) en Attribution Inserm Orphanet
Dandy-Walker malformation with postaxial polydactyly syndrome en Attribution Inserm Orphanet
De novo thrombotic microangiopathy following transplant of kidney (disorder) en Attribution Inserm Orphanet
Deaf blind hypopigmentation syndrome Yemenite type (disorder) en Attribution Inserm Orphanet
Deafness and hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Deafness and intellectual disability Martin Probst type syndrome (disorder) en Attribution Inserm Orphanet
Deafness and myopia syndrome (disorder) en Attribution Inserm Orphanet
Deafness and oligodontia syndrome (disorder) en Attribution Inserm Orphanet
Deafness craniofacial syndrome (disorder) en Attribution Inserm Orphanet
Deafness with cataract and skeletal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) en Attribution Inserm Orphanet
Deafness with malformation of ear and facial palsy syndrome (disorder) en Attribution Inserm Orphanet
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) en Attribution Inserm Orphanet
Deafness, enamel hypoplasia, nail defect syndrome (disorder) en Attribution Inserm Orphanet
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome en Attribution Inserm Orphanet
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) en Attribution Inserm Orphanet
Lowe Kohn Cohen syndrome en Attribution Inserm Orphanet
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Deafness, vitiligo, achalasia syndrome en Attribution Inserm Orphanet
Dedicator of cytokinesis 2 deficiency (disorder) en Attribution Inserm Orphanet
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) en Attribution Inserm Orphanet
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) en Attribution Inserm Orphanet
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) en Attribution Inserm Orphanet
Deficiency of dimethylglycine dehydrogenase (disorder) en Attribution Inserm Orphanet
Deficiency of galactose mutarotase en Attribution Inserm Orphanet
Deficiency of leukotriene C4 synthase (disorder) en Attribution Inserm Orphanet
Deficiency of monoamine oxidase A (disorder) en Attribution Inserm Orphanet
Deficiency of phosphoserine aminotransferase (disorder) en Attribution Inserm Orphanet
Dehydrated hereditary stomatocytosis (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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