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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
Abruzzo Erickson syndrome en Attribution Inserm Orphanet
Cleft palate with short stature and vertebral anomaly syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate with stapes fixation and oligodontia syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Cleft palate, large ears, small head syndrome en Attribution Inserm Orphanet
Cleidorhizomelic syndrome (disorder) en Attribution Inserm Orphanet
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) en Attribution Inserm Orphanet
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) en Attribution Inserm Orphanet
Cochleosaccular degeneration and cataract syndrome (disorder) en Attribution Inserm Orphanet
Coenzyme A synthase protein associated neurodegeneration (disorder) en Attribution Inserm Orphanet
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Coloboma of inferior eyelid (disorder) en Attribution Inserm Orphanet
Coloboma of macula with brachydactyly type B syndrome (disorder) en Attribution Inserm Orphanet
Coloboma of superior eyelid en Attribution Inserm Orphanet
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) en Attribution Inserm Orphanet
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous macrophthalmia with microcornea syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) en Attribution Inserm Orphanet
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome en Attribution Inserm Orphanet
Combined deficiency of factor V and factor VIII (disorder) en Attribution Inserm Orphanet
Combined hamartoma of retina and retinal pigment epithelium en Attribution Inserm Orphanet
Combined immunodeficiency due to CD3gamma deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to CD70 deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to FCHO1 deficiency en Attribution Inserm Orphanet
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to OX40 deficiency en Attribution Inserm Orphanet
Combined immunodeficiency due to RELA haploinsufficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to CARMIL2 deficiency en Attribution Inserm Orphanet
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to DOCK8 deficiency en Attribution Inserm Orphanet
Combined immunodeficiency due to ITK deficiency en Attribution Inserm Orphanet
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to moesin deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency due to transferrin receptor deficiency (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) en Attribution Inserm Orphanet
Combined immunodeficiency, enteropathy spectrum en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 13 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 15 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 2 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 21 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 23 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 24 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 25 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 26 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 27 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 28 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 29 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 30 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 39 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 4 en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 5 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 7 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 8 (disorder) en Attribution Inserm Orphanet
Combined oxidative phosphorylation defect type 9 (disorder) en Attribution Inserm Orphanet
Combined pancreatic lipase and colipase deficiency en Attribution Inserm Orphanet
Combined pituitary hormone deficiency genetic form (disorder) en Attribution Inserm Orphanet
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome en Attribution Inserm Orphanet
Complete septate uterus (disorder) en Attribution Inserm Orphanet
Complex lethal osteochondrodysplasia (disorder) en Attribution Inserm Orphanet
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
COG2-related congenital disorder of glycosylation en Attribution Inserm Orphanet
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) en Attribution Inserm Orphanet
Composite Hodgkin and non-Hodgkin lymphoma (disorder) en Attribution Inserm Orphanet
Conductive deafness, ptosis, skeletal anomalies syndrome en Attribution Inserm Orphanet
Cone dystrophy with supernormal rod response (disorder) en Attribution Inserm Orphanet
Confetti-like atrophic macular lesions of skin (disorder) en Attribution Inserm Orphanet
Congenital Horner syndrome (disorder) en Attribution Inserm Orphanet
Congenital abnormal retraction of eyelid (disorder) en Attribution Inserm Orphanet
Congenital absence of half of thyroid (disorder) en Attribution Inserm Orphanet
Congenital absence of innominate vein (disorder) en Attribution Inserm Orphanet
Congenital absence of optic chiasma (disorder) en Attribution Inserm Orphanet
Congenital accessory tissue of tricuspid valve en Attribution Inserm Orphanet
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) en Attribution Inserm Orphanet
Congenital alpha-2-antiplasmin deficiency (disorder) en Attribution Inserm Orphanet
Congenital amegakaryocytic thrombocytopenia (disorder) en Attribution Inserm Orphanet
Congenital amyoplasia (disorder) en Attribution Inserm Orphanet
Congenital analbuminemia (disorder) en Attribution Inserm Orphanet
Congenital interventricular septum aneurysm en Attribution Inserm Orphanet
Congenital ankylosis of temporomandibular joint (disorder) en Attribution Inserm Orphanet
Congenital anomaly of fourth branchial cleft en Attribution Inserm Orphanet
Congenital anomaly of second branchial cleft en Attribution Inserm Orphanet
Congenital anomaly of third branchial cleft en Attribution Inserm Orphanet
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome en Attribution Inserm Orphanet
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) en Attribution Inserm Orphanet
Congenital atresia of inferior vena cava without azygos continuation (disorder) en Attribution Inserm Orphanet
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) en Attribution Inserm Orphanet
Congenital axonal neuropathy with encephalopathy en Attribution Inserm Orphanet
Congenital azygos continuation of inferior vena cava (disorder) en Attribution Inserm Orphanet
Congenital bile acid synthesis defect type 3 (disorder) en Attribution Inserm Orphanet
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome en Attribution Inserm Orphanet
Congenital cardiac diverticulum (disorder) en Attribution Inserm Orphanet
Congenital cataract microcornea with corneal opacity en Attribution Inserm Orphanet
Congenital cataract with ataxia and deafness syndrome (disorder) en Attribution Inserm Orphanet

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