| syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke beperking (aandoening) | | syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke beperking | | syndroom van ichtyose, alopecia, eclabium, ectropion en verstandelijke handicap
syndroom van ichtyose, alopecia, eclabium, ectropion en mentale retardatie
| | Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome | | Jagell, Holmgren, Hofer syndrome
| | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
| | Id | 763404001 | | 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 | 2269 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.4 | | Rule | TRUE | | Advice | ALWAYS Q82.4 | 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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