Preferred Label : hereditary diseases;
UMLS semantic type : T047 - Disease or Syndrome;
Origin ID : M0010254;
UMLS CUI : C0019247;
Automatic exact mappings (from CISMeF team)
- Related record
- Semantic type(s)
- UMLS correspondences (same concept)
https://www.has-sante.fr/jcms/p_3431473/fr/deficits-immunitaires-hereditaires
2023
France
practice guideline
genetic diseases, inborn
Handbook
chronic disease
Diseases
hereditary disease, nos
Chronic disease
chronic disease, nos
Hereditary disease
immunologic deficiency syndromes
hereditary diseases
---
https://www.inspq.qc.ca/publications/2887
2023
Canada
technical report
recessive hereditary disorder, nos
unilateral
Diseases
saints
judgment
persons
hereditary diseases
corpus callosum agenesis neuronopathy
ribs
Hereditary disease
genetic diseases, inborn
---
https://publications.msss.gouv.qc.ca/msss/document-003344/
2023
false
false
false
Canada
handbooks
hereditary diseases
Diseases
metabolic diseases
metabolism, inborn errors
Metabolic diseases
Hereditary disease
Metabolic diseases
Metabolic diseases
metabolic disease, nos
Program
hereditary disease, nos
waiting lists
---
https://dumas.ccsd.cnrs.fr/dumas-04142148
2023
France
dissertations, academic
hereditary diseases
cardiomyopathies
hereditary disease, nos
metabolic disease, nos
dilated cardiomyopathy secondary to metabolic disorder
Metabolic Disorder
metabolic diseases
Genetic Disorder
Cardiomyopathy
metabolism, inborn errors
---
https://publications.msss.gouv.qc.ca/msss/document-003531/
2022
Canada
handbooks
Amino acid
amino acid, nos
Metabolic diseases
metabolic disease, nos
Hereditary disease
Metabolic diseases
waiting lists
hereditary disease, nos
hereditary diseases
Metabolic diseases
metabolism, inborn errors
amino acids
metabolic diseases
Diseases
Program
---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/panels-des-maladies-cardiovasculaires-hereditaires-par-sequencage-de-nouvelle-generation-rapport-devaluation-sur-le-rapatriement-danalyses-realisees-hors-quebec.html
2022
Canada
technical report
disease of cardiovascular system, nos
Diseases
evaluation report
cardiovascular diseases
hereditary disease, nos
genetic diseases, inborn
family characteristics
sequence determinations
hereditary diseases
evaluation studies as topic
sequence analysis
Diseases of the cardiovascular system
Hereditary disease
albumin/globulin ratio
generations
---
https://www.has-sante.fr/jcms/p_3351757/fr/neuropathie-amyloide-hereditaire-a-transthyretine-nah-ttr
2022
France
practice guideline
Neuropathy
chronic disease, nos
hereditary diseases
Handbook
prealbumin
hereditary disease, nos
amyloidosis, nos
amyloid neuropathies, familial
chronic disease
Hereditary disease
Chronic disease
prealbumin
Diseases
disorder of the peripheral nervous system, nos
amyloid neuropathies
---
https://publications.msss.gouv.qc.ca/msss/document-000201/
2022
Canada
handbooks
metabolism, inborn errors
Social Workers
Metabolic diseases
metabolic diseases
metabolic disease, nos
Metabolic diseases
Metabolic diseases
health facilities
Handbook
health services
Program
hereditary disease, nos
Diseases
social work
Hereditary disease
hereditary diseases
socialism
---
https://www.has-sante.fr/jcms/p_3293150/fr/ichthyoses-hereditaires
2021
France
practice guideline
chronic disease, nos
Hereditary disease
Handbook
hereditary diseases
genetic diseases, inborn
chronic disease
Diseases
Chronic disease
hereditary disease, nos
congenital ichthyosis of skin, nos
---
https://www.has-sante.fr/jcms/p_3278600/fr/maladies-hereditaires-du-metabolisme-du-surfactant
2021
France
practice guideline
metabolic diseases
metabolic disease, nos
Diseases
Metabolic diseases
Chronic disease
Metabolic diseases
chronic disease
chronic disease, nos
chronically ill
hereditary diseases
Hereditary disease
surface-active agents
surfactant, nos
Handbook
Metabolic diseases
hereditary disease, nos
metabolism, inborn errors
surfactants
---
https://www.anses.fr/fr/system/files/NUT2016SA0021.pdf
2017
false
false
false
France
French
scientific and technical information
propionic acid
nutrition therapy
judgment
nutritional requirement
propionic acids
child, nos
methylmalonic acidemia, nos
Amino acid
propionic acid
needs
inlets
methylmalonic acid
relative
medical
propionic acidemia, nos
treaties
nutritional disorder, nos
hereditary disease, nos
nutritional and metabolic diseases
metabolic disease, nos
nutritional requirements
special
methylmalonic acidemia
has assessment
specialists
hereditary diseases
amino acids
amino acid, nos
child
propionic acidemia
propionates
health services needs and demand
bays
international cooperation
nutritional and metabolic diseases
evaluation studies as topic
specialization
genetic diseases, inborn
amino acid metabolism, inborn errors
---
https://www.anses.fr/fr/system/files/NUT2016SA0020.pdf
2017
false
false
false
France
French
scientific and technical information
glutaric acid
Glutaric Acidemia I
nutritional disorder, nos
amino acids
child, nos
nutrition therapy
inlets
nutritional requirement
needs
relative
medical
glutaric aciduria, type 1
special
judgment
treaties
child
hereditary diseases
hereditary disease, nos
nutritional requirements
metabolic disease, nos
metabolism, inborn errors
nutritional and metabolic diseases
has assessment
Amino acid
specialists
amino acid, nos
bays
health services needs and demand
international cooperation
genetic diseases, inborn
nutritional and metabolic diseases
evaluation studies as topic
specialization
glutarates
amino acid metabolism, inborn errors
brain diseases, metabolic
Glutaryl-CoA dehydrogenase
---
https://anpgm.fr/media/documents/ANPGM_131_Maladies_rythmiques_hereditaires.pdf
2017
France
guideline
hereditary disease, nos
genetic diseases, inborn
hereditary diseases
Diseases
Hereditary disease
---
https://www.santepubliquefrance.fr/recherche/#search=Cohorte+française+des+patients+atteints+de+maladies+hémorragiques+par+déficits+héréditaires+en+protéines+de+la+coagulation+-+Réseau+FranceCoag%2E+Données+descriptives+2005
France
scientific and technical information
genetic diseases, inborn
hemorrhagic disorders
protein array analysis
coagulants
protein arrays
hereditary diseases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85195
2014
false
true
false
France
scientific and technical information
hereditary diseases
polyostotic osteolytic dysplasia, hereditary expansile
genetic diseases, inborn
osteolysis
Polyostotic osteolytic dysplasia, hereditary expansile
---
https://www.santepubliquefrance.fr/recherche/#search=Réseau+FranceCoag+%3A+cohorte+française+des+patients+atteints+d'une+maladie+hémorragique+héréditaire+-+Le+point+en+2011
2011
France
technical report
hemorrhagic disorders
hereditary diseases
reticulum
genetic diseases, inborn
---
https://www.santepubliquefrance.fr/recherche/#search=Réseau+FranceCoag+%3A+cohorte+française+des+patients+atteints+d'une+maladie+hémorragique+héréditaire
2011
France
scientific and technical information
genetic diseases, inborn
hereditary diseases
hemorrhagic disorders
reticulum
---
https://anpgm.fr/media/documents/ANPGM_088_Rendu_Osler.doc
2010
France
guideline
telangiectasis, nos
Telangiectasia
genetic diseases, inborn
hereditary disease, nos
telangiectasia, hereditary hemorrhagic
hemorrhage, nos
osler hemorrhagic telangiectasia syndrome
endocarditis, subacute bacterial
Hemorrhage
Hereditary disease
Diseases
hereditary diseases
---
https://anpgm.fr/media/documents/ANPGM_001_Charcot_Marie_Tooth.doc
2009
France
guideline
never married
hereditary disease, nos
Diseases
charcot-marie-tooth disease
amaurosis fugax
thyroid neoplasms
marriage, nos
Neuropathy
amyotrophic lateral sclerosis
ever married
hereditary sensory neuropathy, nos
Hereditary disease
hereditary diseases
hereditary sensory and motor neuropathy
motor neuropathy
single person
family conflict
genetic diseases, inborn
hereditary sensory and motor neuropathy
---
