Genetic Diseases, Inborn [genetické nemoci vrozené]
- Terms
-
dědičné nemoci
monogenně dědičné choroby
monogenní genetické choroby
monogenní nemoci
monogenní onemocnění
-
Genetic Diseases
Genetic Disorders
Hereditary Disease
Hereditary Diseases
Inborn Genetic Diseases
Single-Gene Defects
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
- Annotation
- general; prefer /genet with specific diseases
- obecné nebo nevymezené, dej přednost konkrétnějšímu deskriptoru nemoci s podheslem /genetika
- DUI
- D030342 MeSH Browser
- CUI
- M0385531
- History note
- 2002
- Public note
- 2002; for HEREDITARY DISEASES see HEREDITARY DISEASES 1968-2001
Allowable subheadings
- BL
- blood 6
- CF
- cerebrospinal fluid
- CI
- chemically induced 1
- CL
- classification 32
- CO
- complications 18
- DI
- diagnosis 338
- DG
- diagnostic imaging 2
- DH
- diet therapy 1
- DT
- drug therapy 15
- EC
- economics 3
- EM
- embryology
- EN
- enzymology 3
- EP
- epidemiology 45
- EH
- ethnology 2
- ET
- etiology 86
- GE
- genetics 202
- HI
- history 6
- IM
- immunology 9
- ME
- metabolism 13
- MI
- microbiology
- MO
- mortality 3
- NU
- nursing 1
- PS
- parasitology
- PA
- pathology 43
- PP
- physiopathology 16
- PC
- prevention & control 116
- PX
- psychology 7
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 10
- TH
- therapy 71
- UR
- urine
- VE
- veterinary
- VI
- virology
ACTH Deficiency, Isolated Disease MeSH Browser
Adrenocortical Hypofunction, Chronic Primary Congenital Disease MeSH Browser
Alpha-2-Deficient Collagen Disease Disease MeSH Browser
Atrial Standstill Disease MeSH Browser
Cerebral Palsy, Ataxic, Autosomal Recessive Disease MeSH Browser
Cirrhosis, Familial Disease MeSH Browser
Corticosteroid-Binding Globulin Deficiency Disease MeSH Browser
Cryoglobulinemia, Familial Mixed Disease MeSH Browser
Epistaxis, Hereditary Disease MeSH Browser
Hepatic Fibrosis, Congenital Disease MeSH Browser
Hereditary Myopathy with Early Respiratory Failure Disease MeSH Browser
Histiocytosis, Familial Lipochrome Disease MeSH Browser
Interstitial Pneumonitis, Desquamative, Familial Disease MeSH Browser
Neutropenia, Nonimmune Chronic Idiopathic, Adult Disease MeSH Browser
Parotidomegaly, Hereditary Bilateral Disease MeSH Browser
Platelet Glycoprotein IV Deficiency Disease MeSH Browser
Prolactin Deficiency, Isolated Disease MeSH Browser
Pulmonary Alveolar Microlithiasis Disease MeSH Browser
Rh Deficiency Syndrome Disease MeSH Browser
Narrower terms
- Adrenal Hyperplasia, Congenital
- Alagille Syndrome
- alpha 1-Antitrypsin Deficiency
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Blood Coagulation Disorders, Inherited
- Brugada Syndrome
- CADASIL
- Camurati-Engelmann Syndrome
- Cardiomyopathy, Hypertrophic, Familial
- CHARGE Syndrome
- Cherubism
- Chromosome Disorders
- Ciliopathies
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- Familial Multiple Lipomatosis
- Frasier Syndrome
- GATA2 Deficiency
- Genetic Diseases, X-Linked
- Genetic Diseases, Y-Linked
- Hajdu-Cheney Syndrome
- Hemoglobinopathies
- Hereditary Autoinflammatory Diseases
- Heredodegenerative Disorders, Nervous System
- Hyper-IgM Immunodeficiency Syndrome
- Hyperthyroxinemia, Familial Dysalbuminemic
- Imprinting Disorders
- Kallmann Syndrome
- Kartagener Syndrome
- Laminopathies
- Lennox Gastaut Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Muscular Dystrophies
- Myasthenic Syndromes, Congenital
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Oculocerebrorenal Syndrome
- Orofaciodigital Syndromes
- Osteoarthropathy, Primary Hypertrophic
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Primary Immunodeficiency Diseases
- Pycnodysostosis
- Renal Tubular Transport, Inborn Errors
- Skin Diseases, Genetic
- Werner Syndrome
- Yellow Nail Syndrome