1p36 deletion (Q105605): 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 | ||||||||||||||
Monossomia 1p36 é uma síndrome de deleção cromossômica distinta caracterizada usualmente por atraso grave do desenvolvimento, dificuldades comportamentais e problemas de automutilação, hipotonia e problemas de alimentação com disfagia orofaríngea são frequentes, e convulsões. Outras manifetações dismórficas, cardíacas, visuais e auditivas foram descritas. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Monosomy 1p36 is a distinct chromosome deletion syndrome characterised by usually severe developmental delay, behavioural difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1248053946 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1248053946 | |||||||||||||||
| Property / CURIE: CID11:ID_1248053946 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1248053946 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1248053946 / 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 | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 11:56, 17 August 2026
Monosomy 1p36 is a distinct chromosome deletion syndrome characterised by usually severe developmental delay, behavioural difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1248053946 |
||
| English | 1p36 deletion |
Monosomy 1p36 is a distinct chromosome deletion syndrome characterised by usually severe developmental delay, behavioural difficulties and self-injury, hypotonia and feeding problems with oropharyngeal dysphagia are frequent, and seizures. Other dysmorphic, cardiac, visual and auditive features have been described. |
Statements
CID11:ID_1248053946
0 references
dki-india-ID_1248053946
0 references
Concluído
0 references
16 August 2026
0 references
