CMP-sialic acid transporter deficiency (Q90008): Difference between revisions
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O distúrbio congênito de glicosilação tipo 2F (CDG-IIf) é uma forma extremamente rara de síndrome CDG caracterizada clinicamente no único caso relatado por incidentes hemorrágicos repetidos, incluindo hemorragia pulmonar grave. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/480474610 / rank | |||||||||||||||
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CID11:ID_480474610 | |||||||||||||||
| Property / CURIE: CID11:ID_480474610 / rank | |||||||||||||||
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dki-india-ID_480474610 | |||||||||||||||
| Property / Canary Token: dki-india-ID_480474610 / 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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Latest revision as of 16:56, 15 August 2026
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_480474610 |
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| English | CMP-sialic acid transporter deficiency |
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. |
Statements
CID11:ID_480474610
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dki-india-ID_480474610
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Concluído
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13 August 2026
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