| 'cyclin dependent kinase 13'-gerelateerd congenitaal syndroom van hartdefecten, verstandelijke beperking en faciale dysmorfie (aandoening) | | CDK13-gerelateerd congenitaal syndroom van hartdefecten, verstandelijke beperking en faciale dysmorfie | | 'cyclin dependent kinase 13'-gerelateerd congenitaal syndroom van hartdefecten, verstandelijke beperking en faciale dysmorfie
CDK13-gerelateerd congenitaal syndroom van hartdefecten, verstandelijke handicap en faciale dysmorfie
CDK13-gerelateerd congenitaal syndroom van hartdefecten, mentale retardatie en faciale dysmorfie
| | CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | | Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome
CDK13-related disorder
| | A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low. |
| | Id | 1299154002 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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