17p13.3 duplication (Q92848): 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 microduplicação 17p13.3 é uma anomalia cromossômica caracterizada por um espectro clínico comum que compreende retardo psicomotor leve a moderado, hipotonia e características dismórficas craniofaciais discretas, incluindo testa alta com protuberância frontal, nariz pequeno e boca pequena. | |||||||||||||||
| description / en | description / en | ||||||||||||||
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/288421473 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_288421473 | |||||||||||||||
| Property / CURIE: CID11:ID_288421473 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_288421473 | |||||||||||||||
| Property / Canary Token: dki-india-ID_288421473 / 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 07:58, 16 August 2026
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_288421473 |
||
| English | 17p13.3 duplication |
17p13.3 microduplication syndrome is a chromosomal anomaly characterised by a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. |
Statements
CID11:ID_288421473
0 references
dki-india-ID_288421473
0 references
Concluído
0 references
15 August 2026
0 references
