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Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
Bosma Henkin Christiansen syndrome
Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.
syndroom van hyposmie, hypogeusie, nasale en oculaire hypoplasie en hypogonadotroop hypogonadisme
syndroom van Bosma-Henkin-Christiansen
Bosma-Henkin-Christiansen-syndroom
Id724281002
StatusPrimitive
Associated morphologyHypoplasia
Finding siteExternal nose structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteEntire eye
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified