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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
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) en Attribution Inserm Orphanet
Beta-propeller protein-associated neurodegeneration (disorder) en Attribution Inserm Orphanet
Bethlem myopathy (disorder) en Attribution Inserm Orphanet
Biemond syndrome type 2 (disorder) en Attribution Inserm Orphanet
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) en Attribution Inserm Orphanet
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) en Attribution Inserm Orphanet
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) en Attribution Inserm Orphanet
Bilateral microtia with deafness and cleft palate syndrome (disorder) en Attribution Inserm Orphanet
Bilateral polymicrogyria (disorder) en Attribution Inserm Orphanet
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) en Attribution Inserm Orphanet
Biliary atresia with splenic malformation syndrome (disorder) en Attribution Inserm Orphanet
Bipartite talus (disorder) en Attribution Inserm Orphanet
Birt Hogg Dubé syndrome en Attribution Inserm Orphanet
Birth defect due to maternal hyperthermia (disorder) en Attribution Inserm Orphanet
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) en Attribution Inserm Orphanet
Blepharocheilodontic syndrome (disorder) en Attribution Inserm Orphanet
Blepharonasofacial malformation syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) en Attribution Inserm Orphanet
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) en Attribution Inserm Orphanet
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) en Attribution Inserm Orphanet
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) en Attribution Inserm Orphanet
Blindness, scoliosis, arachnodactyly syndrome (disorder) en Attribution Inserm Orphanet
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Attribution Inserm Orphanet
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) en Attribution Inserm Orphanet
Bohring Opitz syndrome (disorder) en Attribution Inserm Orphanet
Bone dysplasia lethal Holmgren type (disorder) en Attribution Inserm Orphanet
Book syndrome (disorder) en Attribution Inserm Orphanet
Bosley Salih Alorainy syndrome (disorder) en Attribution Inserm Orphanet
Bothnia retinal dystrophy (disorder) en Attribution Inserm Orphanet
Brachydactylous dwarfism Mseleni type en Attribution Inserm Orphanet
Brachydactyly and arterial hypertension syndrome (disorder) en Attribution Inserm Orphanet
Brachydactyly and distal symphalangism syndrome (disorder) en Attribution Inserm Orphanet
Brachydactyly and preaxial hallux varus syndrome en Attribution Inserm Orphanet
Brachydactyly elbow wrist dysplasia (disorder) en Attribution Inserm Orphanet
Brachydactyly type A1 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A2 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A4 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A6 (disorder) en Attribution Inserm Orphanet
Brachydactyly type A7 (disorder) en Attribution Inserm Orphanet
Brachydactyly type B2 (disorder) en Attribution Inserm Orphanet
Brachydactyly with syndactyly Zhao type (disorder) en Attribution Inserm Orphanet
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) en Attribution Inserm Orphanet
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) en Attribution Inserm Orphanet
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) en Attribution Inserm Orphanet
Braddock syndrome (disorder) en Attribution Inserm Orphanet
BRESEK syndrome en Attribution Inserm Orphanet
Brain calcification Rajab type (disorder) en Attribution Inserm Orphanet
Brain dopamine-serotonin vesicular transport disease (disorder) en Attribution Inserm Orphanet
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) en Attribution Inserm Orphanet
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome en Attribution Inserm Orphanet
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) en Attribution Inserm Orphanet
Branchiogenic deafness syndrome (disorder) en Attribution Inserm Orphanet
Branchiootic syndrome (disorder) en Attribution Inserm Orphanet
BSG syndrome en Attribution Inserm Orphanet
Brittle cornea syndrome (disorder) en Attribution Inserm Orphanet
Bullous dystrophy macular type (disorder) en Attribution Inserm Orphanet
Butterfly-shaped pigmentary macular dystrophy (disorder) en Attribution Inserm Orphanet
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) en Attribution Inserm Orphanet
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) en Attribution Inserm Orphanet
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) en Attribution Inserm Orphanet
Calciphylaxis cutis (disorder) en Attribution Inserm Orphanet
Calpain-3-related limb girdle muscular dystrophy D4 en Attribution Inserm Orphanet
Campomelia Cumming type (disorder) en Attribution Inserm Orphanet
Camptobrachydactyly (disorder) en Attribution Inserm Orphanet
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 1 (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 2 (disorder) en Attribution Inserm Orphanet
Camptodactyly syndrome Guadalajara type 3 (disorder) en Attribution Inserm Orphanet
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Attribution Inserm Orphanet
Cap polyposis (disorder) en Attribution Inserm Orphanet
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) en Attribution Inserm Orphanet
Capra DeMarco syndrome (disorder) en Attribution Inserm Orphanet
Carbamoyl-phosphate synthetase 1 deficiency (disorder) en Attribution Inserm Orphanet
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2d (disorder) en Attribution Inserm Orphanet
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) en Attribution Inserm Orphanet
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) en Attribution Inserm Orphanet
CPE-related Prader-Willi-like syndrome en Attribution Inserm Orphanet
Carcinoma of salivary gland type of breast (disorder) en Attribution Inserm Orphanet
Cardiac anomaly and heterotaxy syndrome (disorder) en Attribution Inserm Orphanet
Cardiac urogenital syndrome en Attribution Inserm Orphanet
Cardiocranial syndrome Pfeiffer type (disorder) en Attribution Inserm Orphanet
Cirrhotic cardiomyopathy en Attribution Inserm Orphanet
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) en Attribution Inserm Orphanet
Cardiospondylocarpofacial syndrome (disorder) en Attribution Inserm Orphanet
Carney complex (disorder) en Attribution Inserm Orphanet
Carney complex, trismus, pseudocamptodactyly syndrome en Attribution Inserm Orphanet
Carney triad en Attribution Inserm Orphanet
Caroli disease (disorder) en Attribution Inserm Orphanet
Caroli syndrome en Attribution Inserm Orphanet
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) en Attribution Inserm Orphanet
Cataract and microcornea syndrome (disorder) en Attribution Inserm Orphanet
Cataract glaucoma syndrome (disorder) en Attribution Inserm Orphanet
Cataract with aberrant oral frenula and growth delay syndrome (disorder) en Attribution Inserm Orphanet
Cataract, congenital heart disease, neural tube defect syndrome (disorder) en Attribution Inserm Orphanet

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Reference Sets

Reference set descriptor

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