Congenital methaemoglobinaemia (Q39675): Difference between revisions
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Doença causada por determinantes no período pré-natal que levam à falta da enzima citocromo b5 redutase. Esta doença é caracterizada por níveis elevados de metemoglobina no sangue, levando à liberação ineficaz do oxigênio da hemoglobina para os tecidos corporais. Esta doença pode se manifestar com falta de ar, cianose, cefaleia, fadiga, intolerância a exercícios, tontura e perda da consciência. A confirmação é feita pela identificação da mutação por testes genéticos. | |||||||||||||||
| description / en | description / en | ||||||||||||||
A disease caused by determinants in the antenatal period leading to lack of the enzyme cytochrome b5 reductase. This disease is characterised by elevated levels of methemoglobin within the blood leading to haemoglobin ineffectively releasing oxygen to body tissues. This disease may present with shortness of breath, cyanosis, headache, fatigue, exercise intolerance, dizziness and loss of consciousness. Confirmation is by identification of mutation by genetic testing. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1981095916 / rank | |||||||||||||||
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CID11:3A91 | |||||||||||||||
| Property / CURIE: CID11:3A91 / rank | |||||||||||||||
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dki-india-3A91 | |||||||||||||||
| Property / Canary Token: dki-india-3A91 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: D74.0 / rank | |||||||||||||||
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Latest revision as of 05:11, 13 August 2026
A disease caused by determinants in the antenatal period leading to lack of the enzyme cytochrome b5 reductase. This disease is characterised by elevated levels of methemoglobin within the blood leading to haemoglobin ineffectively releasing oxygen to body tissues. This disease may present with shortness of breath, cyanosis, headache, fatigue, exercise intolerance, dizziness and loss of consciousness. Confirmation is by identification of mutation by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A91 |
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| English | Congenital methaemoglobinaemia |
A disease caused by determinants in the antenatal period leading to lack of the enzyme cytochrome b5 reductase. This disease is characterised by elevated levels of methemoglobin within the blood leading to haemoglobin ineffectively releasing oxygen to body tissues. This disease may present with shortness of breath, cyanosis, headache, fatigue, exercise intolerance, dizziness and loss of consciousness. Confirmation is by identification of mutation by genetic testing. |
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CID11:3A91
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dki-india-3A91
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Concluído
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13 August 2026
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