| syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies (aandoening) | | syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies | | syndroom van gespleten gehemelte en lip, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies
hyaluronidase-2-deficiëntie
syndroom van gespleten verhemelte en lip, craniofaciale dysmorfie, aangeboren hartafwijking en gehoorverlies
| | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome | | Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome
Hyaluronidase 2 deficiency
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma) and conductive or sensorineural hearing loss. |
| | Id | 1187039001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 508476 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
