Disorders of peroxisome biogenesis (Q46725): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (7 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
Os distúrbios da biogênese de peroxissoma incluem o espectro da síndrome de Zellweger e condrodisplasia punctata rizomélica tipo 1 . Eles representam um continuum de distúrbios, incluindo doença de Refsum infantil, adrenoleucodistrofia neonatal e síndrome de Zellweger. Coletivamente, são distúrbios cerebrais de desenvolvimento autossômico recessivo que também resultam em dismorfismo esquelético e craniofacial, disfunção hepática, perda auditiva neurossensorial progressiva e retinopatia. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1919322367 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:5C57.0 | |||||||||||||||
| Property / CURIE: CID11:5C57.0 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-5C57.0 | |||||||||||||||
| Property / Canary Token: dki-india-5C57.0 / 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 | |||||||||||||||
| Property / Linked ICD 10 | |||||||||||||||
| Property / Linked ICD 10: FLAVIA MARIA DOS SANTOS BERGAMI / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 15:31, 13 August 2026
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C57.0 |
||
| English | Disorders of peroxisome biogenesis |
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. |
Statements
CID11:5C57.0
0 references
dki-india-5C57.0
0 references
Concluído
0 references
13 August 2026
0 references
