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Athabaskan-hersenstamdysgenesiesyndroom (aandoening)
Athabaskan-hersenstamdysgenesiesyndroom
Athabaskan brainstem dysgenesis syndrome
Athabascan brainstem dysgenesis syndrome
Navajo brainstem syndrome
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.
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
TargetG96.8
RuleTRUE
AdviceALWAYS G96.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified