Phosphomannose isomerase deficiency (Q94036): Difference between revisions
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A síndrome CDG tipo 1B é um distúrbio congênito de glicosilação caracterizada por manifestações hepático-intestinais (diarreia, vômito e hepatomegalia associada à fibrose hepática). | |||||||||||||||
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CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/803079134 / rank | |||||||||||||||
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CID11:ID_803079134 | |||||||||||||||
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dki-india-ID_803079134 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:09, 16 August 2026
CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_803079134 |
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| English | Phosphomannose isomerase deficiency |
CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis). |
Statements
CID11:ID_803079134
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dki-india-ID_803079134
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Concluído
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15 August 2026
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