| 'glutamine rich 1'-geassocieerd syndroom van verstandelijke beperking en chondrodysplasie (aandoening) | | 'glutamine rich 1'-geassocieerd syndroom van verstandelijke beperking en chondrodysplasie | | 'glutamine rich 1'-geassocieerd syndroom van verstandelijke handicap en chondrodysplasie
QRICH1-geassocieerd syndroom van mentale retardatie en chondrodysplasie
| | QRICH1-related intellectual disability, chondrodysplasia syndrome | | Ververi Brady syndrome
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip and low-set cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
| | Id | 1220568003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 580940 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
