| syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma (aandoening) | | syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma | | erythrokeratodermia variabilis type Kamouraska
syndroom van mentale retardatie, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma
syndroom van verstandelijke handicap, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma
MEDNIK-syndroom
erythrokeratodermia variabilis type 3
| | MEDNIK syndrome | | Erythrokeratodermia variabilis Kamouraska type
Erythrokeratodermia variabilis 3
MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome
| | MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. |
| | Id | 722035007 | | 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 | 171851 |
| 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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