| syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect (aandoening) | | syndroom van hypotrichose, lymfoedeem, teleangiëctasie en renaal defect | | syndroom van hypotrichose, lymfoedeem, teleangiëctasie en nierdefect
| | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | | HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome
| | An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. |
| | Id | 723363009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q84.0 | | Term | Congenitale alopecia |
| Target | Q82.0 | | Term | Hereditair lymfoedeem |
| Target | Q82.5 | | Term | Congenitale niet-neoplastische naevus |
| Target | N07.9 | | Term | Hereditaire nefropathie, niet elders geclassificeerd; niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 69735 |
| SNOMED CT to ICD-10 extended map | | Target | Q84.0 | | Rule | TRUE | | Advice | ALWAYS Q84.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q82.0 | | Rule | TRUE | | Advice | ALWAYS Q82.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q82.5 | | Rule | TRUE | | Advice | ALWAYS Q82.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | N07.9 | | Rule | TRUE | | Advice | ALWAYS N07.9 | 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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