| syndroom van anhidrotische ectodermale dysplasie, immunodeficiëntie, osteopetrose en lymfoedeem (aandoening) | | syndroom van anhidrotische ectodermale dysplasie, immunodeficiëntie, osteopetrose en lymfoedeem | | anhidrotische ectodermale dysplasie-immuundeficiëntie-osteopetrose-lymfoedeem-syndroom
OL-EDA-ID-syndroom
| | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome
| | This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). |
| | Id | 720986005 | | 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 | 69088 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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