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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.
Id720518006
StatusPrimitive
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
SNOMED CT to Orphanet simple map69739
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified