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syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung (aandoening)
syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung
syndroom van Haddad
Haddad-syndroom
Haddad syndrome
Ondine Hirschsprung syndrome
Ondine Hirschsprung disease
Congenital central alveolar hypoventilation with Hirschsprung disease syndrome
A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.
Id719972004
StatusPrimitive
Associated morphologydilatatie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypertrofie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG47.3
TermSlaapapnoe
SNOMED CT to Orphanet simple map99803
SNOMED CT to ICD-10 extended map
TargetG47.3
RuleTRUE
AdviceALWAYS G47.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified