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syndroom van palatoschisis, coloboom en doofheid (aandoening)
syndroom van palatoschisis, coloboom en doofheid
CHARGE-achtig syndroom
gespleten gehemelte-coloboom-doofheid-syndroom
syndroom van Abruzzo-Erickson
palatoschisis-coloboom-doofheid-syndroom
Abruzzo Erickson syndrome
CHARGE-like syndrome
Cleft palate with coloboma of eye and deafness syndrome
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Id718574003
StatusPrimitive
Finding sitestructuur van oor
Occurrencecongenitaal
Has interpretationgestoord
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map921
SNOMED CT to ICD-10 extended map
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