syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis (aandoening) | | syndroom van branchiale dysplasie, verstandelijke beperking en hernia inguinalis | | syndroom van Lambert syndroom van branchiale dysplasie, mentale retardatie en hernia inguinalis syndroom van branchiale dysplasie, verstandelijke handicap en hernia inguinalis
| | Branchial dysplasia, intellectual disability, inguinal hernia syndrome | | Lambert syndrome
| | A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. |
| Id | 732961003 | 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 |
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SNOMED CT to Orphanet simple map | 1296 |
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 |
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