| syndroom van holoprosencefalie, ectrodactylie en cheilopalatoschisis (aandoening) | | syndroom van holoprosencefalie, ectrodactylie en cheilopalatoschisis | | syndroom van holoprosencefalie, ectrodactylie, gespleten gehemelte en gespleten lip
syndroom van Hartsfield
| | Hartsfield syndrome | | Hartsfield Bixler Demyer syndrome
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
| | A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
| | Id | 766032007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 2117 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
