Hyperprolinaemia type 2 (Q56822): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A hiperprolinaemia tipo 2 é um distúrbio autossômico recessivo do metabolismo da prolina devido à deficiência de pirrolina-5-carboxilato desidrogenase. A condição costuma ser benigna, mas os sinais clínicos podem incluir convulsões, deficiência intelectual e leve atraso no desenvolvimento. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Hyperprolinaemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1574091524 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1574091524 | |||||||||||||||
| Property / CURIE: CID11:ID_1574091524 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1574091524 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1574091524 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 04:31, 14 August 2026
Hyperprolinaemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1574091524 |
||
| English | Hyperprolinaemia type 2 |
Hyperprolinaemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. |
Statements
CID11:ID_1574091524
0 references
dki-india-ID_1574091524
0 references
Concluído
0 references
13 August 2026
0 references
