| syndroom van keratitis, ichtyose en doofheid (aandoening) | | syndroom van keratitis, ichtyose en doofheid | | KID-syndroom
| | KID syndrome | | Keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome
KID/HID syndrome
Keratitis ichthyosis deafness syndrome
Ichthyosis hystrix Rheydt type
KIDS - Keratitis ichthyosis and deafness syndrome
Keratitis ichthyosis and deafness syndrome
| | A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. |
| | Id | 239059004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q80.8 | | Term | Overige gespecificeerde vormen van congenitale ichthyose |
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| SNOMED CT to Orphanet simple map | 477 |
| SNOMED CT to ICD-10 extended map | | Target | Q80.8 | | Rule | TRUE | | Advice | ALWAYS Q80.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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