Corneal anaesthesia - deafness - intellectual disability (Q61398): 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 | ||
Síndrome de anestesia corneana - surdez - déficit intelectual é caracterizada por córneas hipoestésicas, ausência do epitélio pigmentar da retina e coriocapilar peripapilar, perda auditiva neurossensorial bilateral, ducto arterial persistente, déficit intelectual moderado e uma aparência facial incomum (hipertelorismo, perfil facial plano, protuberância frontal, ponte nasal deprimida e hipoplasia médio-facial). | |||
| description / en | description / en | ||
Corneal anaesthesia - deafness - intellectual deficit syndrome is characterised by hypoesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus, moderate intellectual deficit and an unusual facial appearance (hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia). | |||
Revision as of 08:52, 14 August 2026
Corneal anaesthesia - deafness - intellectual deficit syndrome is characterised by hypoesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus, moderate intellectual deficit and an unusual facial appearance (hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1441837186 |
||
| English | Corneal anaesthesia - deafness - intellectual disability |
Corneal anaesthesia - deafness - intellectual deficit syndrome is characterised by hypoesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus, moderate intellectual deficit and an unusual facial appearance (hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia). |
