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Haddad syndrome (disorder)
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.
syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung
Haddad-syndroom
syndroom van Haddad
Id719972004
StatusPrimitive
Associated morphologyDilatation
Finding siteColon structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypertrophy
Finding siteColon structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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