Begreppsinformation
Föredragen term
Genetic Diseases, Inborn
Typ
-
Topical Descriptor
Överordnat begrepp
Underordnade begrepp
- 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
Hänvisningstermer
- Inborn Genetic Diseases
Anmärkning
- general; prefer /genet with specific diseases
Användningsanmärkning
- 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.
Anmärkning om ändringshistoria
- 2002
Termer på andra språk
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finska
-
hereditaariset sairaudet
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hereditaariset taudit
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hereditääriset sairaudet
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hereditääriset taudit
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perinnöllinen sairaus
-
perinnöllinen tauti
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perinnölliset taudit
-
periytyvä sairaus
-
periytyvä tauti
-
periytyvät sairaudet
-
periytyvät taudit
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synnynnäinen geneettinen sairaus
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synnynnäiset geneettiset sairaudet
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svenska
URI
http://www.yso.fi/onto/mesh/D030342
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