| autosomaal dominant syndroom van verstandelijke beperking, craniofaciale afwijkingen en hartdefecten (aandoening) | | autosomaal dominant syndroom van verstandelijke beperking, craniofaciale afwijkingen en hartdefecten | | autosomaal dominant syndroom van mentale retardatie, craniofaciale afwijkingen en hartdefecten
KAT6A-syndroom
Arboleda-Tham-syndroom
autosomaal dominant syndroom van verstandelijke handicap, craniofaciale afwijkingen en hartdefecten
| | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | | Arboleda Tham syndrome
| | A rare genetic neurodevelopmental disorder with characteristics of global developmental delay and variable degrees of intellectual disability with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. The disorder is caused by heterozygous pathogenic variants affecting the KAT6A gene (8p11.21) which encodes for a lysine (K) acetyltransferase 6A that forms part of a histone acetyltransferase complex regulating transcriptional activity and gene expression. The disorder is autosomal dominant, most cases are sporadic due to de novo variants. |
| | Id | 1255319004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457193 |
| 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 |
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