| syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda (aandoening) | | syndroom van sacrale agenesie, afwijkende ossificatie van wervellichamen en persisterende notochorda | | syndroom van sacrale agenesie, abnormale botontwikkeling van wervellichamen en persisterende chorda dorsalis
| | Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | | A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
| | Id | 774150004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.5 | | Term | Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen |
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| SNOMED CT to Orphanet simple map | 397927 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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