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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
Congenital pontocerebellar hypoplasia type 14 en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 2 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 3 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 4 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 6 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 7 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 8 (disorder) en Attribution Inserm Orphanet
Congenital pontocerebellar hypoplasia type 9 (disorder) en Attribution Inserm Orphanet
Congenital primary lymphedema of Gordon (disorder) en Attribution Inserm Orphanet
Congenital primary megaureter (disorder) en Attribution Inserm Orphanet
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Congenital pseudoarthrosis of limb (disorder) en Attribution Inserm Orphanet
Congenital retained medullary spinal cord en Attribution Inserm Orphanet
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) en Attribution Inserm Orphanet
Congenital segmental spinal dysgenesis (disorder) en Attribution Inserm Orphanet
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 systemic arteriovenous fistula 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
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) en Attribution Inserm Orphanet
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) en Attribution Inserm Orphanet
Cooks syndrome (disorder) en Attribution Inserm Orphanet
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome en Attribution Inserm Orphanet
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation en Attribution Inserm Orphanet
Corticobasal syndrome (disorder) en Attribution Inserm Orphanet
Corticosteroid sensitive aseptic abscess syndrome (disorder) en Attribution Inserm Orphanet
Corticosteroid-binding globulin deficiency (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
Cranio-cervical dystonia with laryngeal and upper limb involvement 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 osteopenia 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
Craniorhiny (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 dental anomalies syndrome 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, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome 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
Crouzon syndrome en Attribution Inserm Orphanet
Cryptogenic late-onset epileptic spasms 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
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (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
Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (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
Cystathioninuria 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

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Reference Sets

Reference set descriptor

Description inactivation indicator reference set

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