FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

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
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) en Attribution Inserm Orphanet
Accessory anterior naris (disorder) en Attribution Inserm Orphanet
Acetazolamide responsive myotonia (disorder) en Attribution Inserm Orphanet
Achalasia microcephaly syndrome (disorder) en Attribution Inserm Orphanet
Ackerman syndrome (disorder) en Attribution Inserm Orphanet
Acquired cystic disease associated renal cell carcinoma (disorder) en Attribution Inserm Orphanet
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) en Attribution Inserm Orphanet
Acquired purpura fulminans (disorder) en Attribution Inserm Orphanet
Acral dystrophic epidermolysis bullosa (disorder) en Attribution Inserm Orphanet
Acral self-healing collodion baby (disorder) en Attribution Inserm Orphanet
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) en Attribution Inserm Orphanet
Acrocallosal syndrome (disorder) en Attribution Inserm Orphanet
Acrocapitofemoral dysplasia (disorder) en Attribution Inserm Orphanet
Acrocardiofacial syndrome (disorder) en Attribution Inserm Orphanet
Acrocephalopolydactyly (disorder) en Attribution Inserm Orphanet
Acrocraniofacial dysostosis (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Catania type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Kennedy Teebi type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Palagonia type (disorder) en Attribution Inserm Orphanet
Acrofacial dysostosis Rodriguez type (disorder) en Attribution Inserm Orphanet
Acrofrontofacionasal dysostosis (disorder) en Attribution Inserm Orphanet
Acrofrontofacionasal dysostosis type 2 en Attribution Inserm Orphanet
Acromelic frontonasal dysplasia (disorder) en Attribution Inserm Orphanet
Acromesomelic dysplasia Maroteaux type (disorder) en Attribution Inserm Orphanet
Acrootoocular syndrome (disorder) en Attribution Inserm Orphanet
Acropectoral syndrome (disorder) en Attribution Inserm Orphanet
Acropectorovertebral dysplasia (disorder) en Attribution Inserm Orphanet
Acrorenal mandibular syndrome (disorder) en Attribution Inserm Orphanet
Acrorenal syndrome (disorder) en Attribution Inserm Orphanet
Acrorenoocular syndrome (disorder) en Attribution Inserm Orphanet
Action myoclonus renal failure syndrome en Attribution Inserm Orphanet
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder en Attribution Inserm Orphanet
Acute adrenal insufficiency en Attribution Inserm Orphanet
Acute bilateral depigmentation of iris (disorder) en Attribution Inserm Orphanet
Acute encephalopathy with biphasic seizures and late reduced diffusion en Attribution Inserm Orphanet
Acute fatty liver of pregnancy (disorder) en Attribution Inserm Orphanet
Acute generalized exanthematous pustulosis (disorder) en Attribution Inserm Orphanet
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) en Attribution Inserm Orphanet
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) en Attribution Inserm Orphanet
Acute bilirubin encephalopathy en Attribution Inserm Orphanet
Acute macular neuroretinopathy (disorder) en Attribution Inserm Orphanet
Acute motor axonal neuropathy (disorder) en Attribution Inserm Orphanet
Acute motor sensory axonal Guillain-Barré syndrome (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia and myelodysplastic syndrome related to alkylating agent en Attribution Inserm Orphanet
Acute myeloid leukaemia and myelodysplastic syndrome related to radiation en Attribution Inserm Orphanet
Acute myeloid leukemia and myelodysplastic syndrome related to topoisomerase type 2 inhibitor en Attribution Inserm Orphanet
Acute myeloid leukemia with 11q23 abnormality (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with BCR-ABL1 en Attribution Inserm Orphanet
Acute myeloid leukaemia with CEBPA somatic mutations en Attribution Inserm Orphanet
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with t(6;9)(p23;q34) translocation (disorder) en Attribution Inserm Orphanet
Acute myeloid leukemia with t(8;16)(p11;p13) translocation (disorder) en Attribution Inserm Orphanet
Acute necrotising encephalopathy of childhood en Attribution Inserm Orphanet
Acute occlusion of peripheral artery due to thrombosis (disorder) en Attribution Inserm Orphanet
Acute panmyelosis with myelofibrosis en Attribution Inserm Orphanet
Acute radiation syndrome (disorder) en Attribution Inserm Orphanet
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) en Attribution Inserm Orphanet
Acute right ventricular failure following incision of heart (disorder) en Attribution Inserm Orphanet
Acute sensory ataxic neuropathy (disorder) en Attribution Inserm Orphanet
Acute tricyclic antidepressant poisoning en Attribution Inserm Orphanet
Acute undifferentiated leukemia (disorder) en Attribution Inserm Orphanet
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) en Attribution Inserm Orphanet
Adenocarcinoma of anal canal en Attribution Inserm Orphanet
Adenocarcinoma of gallbladder and extrahepatic biliary tract (disorder) en Attribution Inserm Orphanet
Adenocarcinoma of penis (disorder) en Attribution Inserm Orphanet
Adenovirus infection in immunocompromised person (disorder) en Attribution Inserm Orphanet
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) en Attribution Inserm Orphanet
Adrenomyodystrophy (disorder) en Attribution Inserm Orphanet
Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) en Attribution Inserm Orphanet
Adult heart tumor (disorder) en Attribution Inserm Orphanet
Adult hepatocellular carcinoma en Attribution Inserm Orphanet
Adult onset non-insulinoma persistent hyperinsulinemic hypoglycemia (disorder) en Attribution Inserm Orphanet
Adult pure red cell aplasia (disorder) en Attribution Inserm Orphanet
Adult-onset autosomal recessive sideroblastic anemia (disorder) en Attribution Inserm Orphanet
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) en Attribution Inserm Orphanet
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) en Attribution Inserm Orphanet
Adult-onset dystonia parkinsonism (disorder) en Attribution Inserm Orphanet
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency en Attribution Inserm Orphanet
Adult-onset overlap myositis en Attribution Inserm Orphanet
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) en Attribution Inserm Orphanet
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) en Attribution Inserm Orphanet
Cerebellum agenesis with hydrocephaly en Attribution Inserm Orphanet
Agenesis of corpus callosum and abnormal genitalia syndrome en Attribution Inserm Orphanet
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) en Attribution Inserm Orphanet
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) en Attribution Inserm Orphanet
Agenesis of internal carotid artery (disorder) en Attribution Inserm Orphanet
Agenesis of scrotum (disorder) en Attribution Inserm Orphanet
Aggressive fibromatosis (disorder) en Attribution Inserm Orphanet
Aggressive systemic mastocytosis (disorder) en Attribution Inserm Orphanet
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) en Attribution Inserm Orphanet
Aland Islands eye disease (disorder) en Attribution Inserm Orphanet
Stimmler syndrome en Attribution Inserm Orphanet
Albinism with deafness syndrome (disorder) en Attribution Inserm Orphanet
Alexander disease type II en Attribution Inserm Orphanet
Alkaline phosphatase intestinal gene related inflammatory bowel disease (disorder) en Attribution Inserm Orphanet
Alkuraya Kucinskas syndrome en Attribution Inserm Orphanet
Alopecia and intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) en Attribution Inserm Orphanet
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) en Attribution Inserm Orphanet
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) en Attribution Inserm Orphanet

Start Page 2 of 42 Next End

Reference Sets

Reference set descriptor

Back to Start