genetics - CISMeF

* Meta-terms correspond to biological or medical specialty concerned with one or more keywords (or keywords hierarchies), qualifiers, or resource types. Other terms also benefit from this structure, when the topic warrants it, eg education. See the list.

Preferred Label : genetics;

True Meta (CISMeF) : O;

Details

Origin ID

MT58;

UMLS CUI

C0017398;

Automatic exact mappings (from CISMeF team)
- Gene Therapy [NCIt concept]
- Genetics [EDAM topic]
- Genetics [PASCAL theme]
- Genetics [PASCAL theme]
- Genetics [PASCAL theme]
- Genetics [UNESCO concept]
- Genus Colaptes (organism) [SNOMED CT concept]
- Genus Passer (organism) [SNOMED CT concept]
- Genus Perdix (organism) [SNOMED CT concept]
- Operator gene (substance) [SNOMED CT concept]
- cytisus [MeSH Descriptor]
- gene type, nos [SNOMED Notion]
- gene, nos [SNOMED Notion]
- genetic [Radlex concept]
- genetic load [MeSH Descriptor]
- genetic research [MeSH Descriptor]
- genets [MeSH concept]
- genetta, nos [SNOMED Notion]
- viverridae [MeSH Descriptor]
CISMeF Resource Types
- genetic counseling [CISMeF resources Type]
FMA entities
- Genome [FMA entity]
ICD-10 codes
- Abnormal findings in specimens from other organs, systems and tissues | Other abnormal findings, abnormal chromosomal findings [ICD-10 Sub-category (who)]
- Acquired absence of limb [ICD-10 category]
- Acquired absence of limb [ICD-10 category (who)]
- Balanced rearrangements and structural markers, not elsewhere classified [ICD-10 category]
- Balanced rearrangements and structural markers, not elsewhere classified [ICD-10 category (who)]
- Crigler-Najjar syndrome [ICD-10 Sub-category]
- Crigler-Najjar syndrome [ICD-10 Sub-category (who)]
- Disorders of aromatic amino-acid metabolism [ICD-10 category]
- Disorders of aromatic amino-acid metabolism [ICD-10 category (who)]
- Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism [ICD-10 category]
- Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism [ICD-10 category (who)]
- Disorders of glycoprotein metabolism [ICD-10 category]
- Disorders of glycoprotein metabolism [ICD-10 category (who)]
- Disorders of glycosaminoglycan metabolism [ICD-10 category]
- Disorders of glycosaminoglycan metabolism [ICD-10 category (who)]
- Disorders of lipoprotein metabolism and other lipidaemias [ICD-10 category (who)]
- Disorders of lipoprotein metabolism and other lipidemias [ICD-10 category]
- Disorders of purine and pyrimidine metabolism [ICD-10 category]
- Disorders of purine and pyrimidine metabolism [ICD-10 category (who)]
- Disorders of sphingolipid metabolism and other lipid storage disorders [ICD-10 category]
- Disorders of sphingolipid metabolism and other lipid storage disorders [ICD-10 category (who)]
- Down syndrome [ICD-10 category]
- Downs syndrome [ICD-10 category (who)]
- Edwards syndrome and Pataus syndrome [ICD-10 category (who)]
- Encounter for screening for genetic and chromosomal anomalies [ICD-10 Sub-category]
- Gilbert syndrome [ICD-10 Sub-category]
- Gilberts syndrome [ICD-10 Sub-category (who)]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Hereditary nephropathy, not elsewhere classified [ICD-10 category]
- Hereditary nephropathy, not elsewhere classified [ICD-10 category (who)]
- Heredofamilial amyloidosis, unspecified [ICD-10 Sub-category]
- Heredofamilial amyloidosis, unspecified [ICD-10 Sub-category (who)]
- Monosomies and deletions from the autosomes, not elsewhere classified [ICD-10 category]
- Monosomies and deletions from the autosomes, not elsewhere classified [ICD-10 category (who)]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- Neuropathic heredofamilial amyloidosis [ICD-10 Sub-category (who)]
- Non-neuropathic heredofamilial amyloidosis [ICD-10 Sub-category]
- Non-neuropathic heredofamilial amyloidosis [ICD-10 Sub-category (who)]
- Other abnormal findings in specimens from other organs, systems and tissues [ICD-10 Sub-category]
- Other chromosome abnormalities, not elsewhere classified [ICD-10 category]
- Other chromosome abnormalities, not elsewhere classified [ICD-10 category (who)]
- Other disorders of carbohydrate metabolism [ICD-10 category]
- Other disorders of carbohydrate metabolism [ICD-10 category (who)]
- Other sex chromosome abnormalities, female phenotype, not elsewhere classified [ICD-10 category]
- Other sex chromosome abnormalities, female phenotype, not elsewhere classified [ICD-10 category (who)]
- Other sex chromosome abnormalities, male phenotype, not elsewhere classified [ICD-10 category]
- Other sex chromosome abnormalities, male phenotype, not elsewhere classified [ICD-10 category (who)]
- Other trisomies and partial trisomies of the autosomes, not elsewhere classified [ICD-10 category]
- Other trisomies and partial trisomies of the autosomes, not elsewhere classified [ICD-10 category (who)]
- Porphyria cutanea tarda [ICD-10 Sub-category]
- Porphyria cutanea tarda [ICD-10 Sub-category (who)]
- Special screening examination for congenital malformations, deformations and chromosomal abnormalities [ICD-10 Sub-category (who)]
- Trisomy 18 and Trisomy 13 [ICD-10 category]
- Turner's syndrome [ICD-10 category]
- Turners syndrome [ICD-10 category (who)]
Indication(s)
- HR-positive, HER2-negative locally advanced breast cancer with PIK3CA mutation [Indication]
- advanced non-small cell lung cancer with activating epidermal growth factor receptor exon 20 insertion mutations [Indication]
- cystic fibrosis with F508del mutation in the cystic fibrosis transmembrane conductance regulator gene [Indication]
- metastatic colorectal cancer with a BRAF V600E mutation [Indication]
- mismatch repair deficient/microsatellite instability-high recurrent or advanced endometrial cancer that has progressed [Indication]
- obesity due to Bardet-Biedl Syndrome [Indication]
- ocular cystinosis [Indication]
MeSH
- databases, genetic [MeSH Descriptor]
- food, genetically modified [MeSH Descriptor]
- forensic genetics [MeSH Descriptor]
- genetic diseases, inborn [MeSH Descriptor]
- genetic phenomena [MeSH Descriptor]
- genetic privacy [MeSH Descriptor]
- genetic services [MeSH Descriptor]
- genetic techniques [MeSH Descriptor]
- genetic therapy [MeSH Descriptor]
- genetics [MeSH Descriptor]
- immunogenetic phenomena [MeSH Descriptor]
- models, genetic [MeSH Descriptor]
- organisms, genetically modified [MeSH Descriptor]
MeSH qualifiers
- genetics [MeSH Qualifier]
SNOMED CT concepts
- Chromosomal disorder (disorder) [SNOMED CT concept]
- Epigenetic disorder (disorder) [SNOMED CT concept]
- Familial disease (disorder) [SNOMED CT concept]
- Genetic disease (disorder) [SNOMED CT concept]
SNOMED int. notions
- albinism, nos [SNOMED Notion]
- autosomal dominant oculocutaneous albinism [SNOMED Notion]
- black locks, oculocutaneous albinism, and deafness of the sensorineural type [SNOMED Notion]
- brown oculocutaneous albinism [SNOMED Notion]
- chediak-higashi syndrome [SNOMED Notion]
- congenital dyserythropoietic anemia, nos [SNOMED Notion]
- congenital dyserythropoietic anemia, type i [SNOMED Notion]
- congenital dyserythropoietic anemia, type ii [SNOMED Notion]
- congenital dyserythropoietic anemia, type iii [SNOMED Notion]
- congenital hemolytic anemia, nos [SNOMED Notion]
- cross syndrome [SNOMED Notion]
- familial disease, nos [SNOMED Notion]
- familial interstitial nephritis [SNOMED Notion]
- familial megaloblastic anemia [SNOMED Notion]
- hereditary disease in family possibly affecting fetus [SNOMED Notion]
- hereditary hemolytic anemia, nos [SNOMED Notion]
- hereditary tubulointerstitial disorder, nos [SNOMED Notion]
- hereditary vitamin d dependency syndrome type, ii [SNOMED Notion]
- hereditary vitamin d dependency syndrome, nos [SNOMED Notion]
- hereditary vitamin d dependency syndrome, type i [SNOMED Notion]
- hermansky-pudlak syndrome [SNOMED Notion]
- megaloblastic anemia due to congenital deficiency of intrinsic factor [SNOMED Notion]
- megaloblastic anemia due to inborn errors of metabolism, nos [SNOMED Notion]
- oculocutaneous albinism, nos [SNOMED Notion]
- rufous albinism [SNOMED Notion]
- sickle cell nephropathy [SNOMED Notion]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]
- yellow mutant oculocutaneous albinism [SNOMED Notion]
See also
- Precision Medicine [MeSH Descriptor]
See also (suggested by CISMeF)
- Precision Medicine [MeSH Descriptor]
See also inter- (CISMeF)
- Genetic [NCIt concept]
Semantic type(s)
- Biomedical Occupation or Discipline [UMLS semantic type]
UMLS correspondences (same concept)
- Genetics [NCIt concept]
- Genetics [LOINC Class]
- genetics [MeSH Descriptor]
- genetics [MeSH concept]

Main resources

You can consult :

main resources (all types) organisations associations associations of patients health facilities teaching structure les périodiques	forum and mailing list for patients scientific and technical information guidelines reports and studies teaching material documents for patients les ressources contenant des images
See genetics in CISMeF terminology Search genetics in "Inforoute"