Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (Q96318): 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 síndrome de depleção do DNA mitocondrial, forma encefalomiopática com acidúria metilmalônica, é caracterizada pela associação de uma encefalomiopatia mitocondrial e uma aminoacidopatia. Manifesta-se com retardo no desenvolvimento, sinais neurológicos, surdez, intolerância ao exercício, acidose láctica e elevação de vários aminoácidos plasmáticos. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1700584252 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1700584252 | |||||||||||||||
| Property / CURIE: CID11:ID_1700584252 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1700584252 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1700584252 / 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 | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 12:16, 16 August 2026
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1700584252 |
||
| English | Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. |
Statements
CID11:ID_1700584252
0 references
dki-india-ID_1700584252
0 references
Concluído
0 references
15 August 2026
0 references
