| NPHP3-gerelateerd Meckel-achtig syndroom (aandoening) | | NPHP3-gerelateerd Meckel-achtig syndroom | | Meckel-achtig syndroom type 1
syndroom van Goldston
| | NPHP3-related Meckel-like syndrome | | NPHP3 (nephrocystin 3) related Meckel-like syndrome
Meckel syndrome type 7
Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome
Meckel-like syndrome type 1
Goldston syndrome
Nephrocystin 3-related Meckel-like syndrome
| | A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22. |
| | Id | 773737004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q61.9 | | Term | Cystische nierziekte, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 3032 |
| SNOMED CT to ICD-10 extended map | | Target | Q61.9 | | Rule | TRUE | | Advice | ALWAYS Q61.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
