Concept information
Preferred term
Genetic Diseases, Inborn
Type
-
Topical Descriptor
Broader concept
Narrower concepts
- Alagille Syndrome
- alpha 1-Antitrypsin Deficiency
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Autoimmune Lymphoproliferative Syndrome
- Blood Coagulation Disorders, Inherited
- Brugada Syndrome
- CADASIL
- Cardiomyopathy, Hypertrophic, Familial
- 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
- Heredodegenerative Disorders, Nervous System
- Hyperthyroxinemia, Familial Dysalbuminemic
- Kallmann Syndrome
- Laminopathies
- Lennox Gastaut Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Muscular Dystrophies
- Myasthenic Syndromes, Congenital
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Osteoarthropathy, Primary Hypertrophic
- Osteochondrodysplasias
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Primary Immunodeficiency Diseases
- Skin Diseases, Genetic
- Werner Syndrome
- Yellow Nail Syndrome
Entry terms
- Inborn Genetic Diseases
Note
- general; prefer /genet with specific diseases
Scope note
- 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.
History note
- 2002
In other languages
-
Finnish
-
hereditaariset sairaudet
-
hereditaariset taudit
-
hereditääriset sairaudet
-
hereditääriset taudit
-
perinnöllinen sairaus
-
perinnöllinen tauti
-
perinnölliset taudit
-
periytyvä sairaus
-
periytyvä tauti
-
periytyvät sairaudet
-
periytyvät taudit
-
synnynnäinen geneettinen sairaus
-
synnynnäiset geneettiset sairaudet
-
Swedish
URI
http://www.yso.fi/onto/mesh/D030342
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