Käsitteen tiedot
Käytettävä termi
Genetic Diseases, Inborn
Tyyppi
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Topical Descriptor
Alakäsitteet
- 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
- Imprinting Disorders
- 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
Ohjaustermit
- Inborn Genetic Diseases
Huomautus
- general; prefer /genet with specific diseases
Käyttöhuomautus
- 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.
Huomautus muutoshistoriasta
- 2002
Muunkieliset termit
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ruotsi
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Genetiska avvikelser
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Genetiska sjukdomar
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Hereditära sjukdomar
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Monogent ärftliga sjukdomar
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Ärftliga sjukdomar
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suomi
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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
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perinnöllinen tauti
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perinnölliset taudit
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periytyvä sairaus
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periytyvä tauti
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periytyvät sairaudet
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periytyvät taudit
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synnynnäinen geneettinen sairaus
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synnynnäiset geneettiset sairaudet
URI
http://www.yso.fi/onto/mesh/D030342
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