| syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke beperking (aandoening) | | syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke beperking | | syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke handicap
syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en mentale retardatie
| | Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome | | A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
| | Id | 773692000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q81.8 | | Term | Overige gespecificeerde vormen van epidermolysis bullosa |
|
| SNOMED CT to Orphanet simple map | 231556 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.8 | | Rule | TRUE | | Advice | ALWAYS Q81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
