| syndroom van longfibrose, immunodeficiëntie en 46,XX-gonadale dysgenesie (aandoening) | | syndroom van longfibrose, immunodeficiëntie en 46,XX-gonadale dysgenesie | | syndroom van longfibrose, immuundeficiëntie en 46,XX-gonadale dysgenesie
| | Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome | | This syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. |
| | Id | 721977007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D82.8 | | Term | Immunodeficiëntie samengaand met andere gespecificeerde belangrijke defecten |
| Target | J84.1 | | Term | Overige interstitiële longziekten met fibrose |
| Target | Q99.1 | | Term | 46,XX echte hermafrodiet |
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| SNOMED CT to Orphanet simple map | 137631 |
| SNOMED CT to ICD-10 extended map | | Target | D82.8 | | Rule | TRUE | | Advice | ALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | J84.1 | | Rule | TRUE | | Advice | ALWAYS J84.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q99.1 | | Rule | TRUE | | Advice | ALWAYS Q99.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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