Athabaskan-hersenstamdysgenesiesyndroom (aandoening) | | Athabaskan-hersenstamdysgenesiesyndroom | | Athabaskan brainstem dysgenesis syndrome | | Athabascan brainstem dysgenesis syndrome Navajo brainstem syndrome
| | Syndrome with characteristics of deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. |
| Id | 720518006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q04.3 | Term | Overige onderontwikkeling van hersenen |
|
SNOMED CT to Orphanet simple map | 69739 |
SNOMED CT to ICD-10 extended map | Target | Q04.3 | Rule | TRUE | Advice | ALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|