CATCH 22 phenotype (Q39701): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A síndrome da monossomia 22q11 (síndrome Velocardiofacial DiGeorge, DGS/VCF) é uma anomalia cromossômica caracterizada pela associação de várias malformações variáveis: timo e glândulas paratireoides hipoplásicos, defeitos cardíacos conotruncais congênitos, um dismorfismo facial sutil, mas característico, fenda palatina ou insuficiência velar, e dificuldade no aprendizado. | |||
| description / en | description / en | ||
Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties. | |||
Revision as of 05:13, 13 August 2026
Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD44.N0 |
||
| English | CATCH 22 phenotype |
Monosomy 22q11 (DiGeorge Velocardiofacial syndrome, DGS/VCF) syndrome is a chromosomal anomaly characterised by the association of several variable malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal heart defects, a subtle but characteristic facial dysmorphism, cleft palate or velar insufficiency, and learning difficulties. |
