Cornelia de Lange syndrome (Q94152): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1801560012 / rank | |||
Normal rank | |||
Revision as of 09:16, 16 August 2026
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1801560012 |
||
| English | Cornelia de Lange syndrome |
Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney). |
