| autosomaal recessieve cutis laxa type 1C (aandoening) | | autosomaal recessieve cutis laxa type 1C | | cutis laxa met ernstige pulmonale, gastro-intestinale en urinewegafwijkingen
| | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | | Urban Rifkin Davis syndrome
Autosomal recessive cutis laxa type 1C
ARCL1C - autosomal recessive cutis laxa type 1C
| | A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. |
| | Id | 784349004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
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| SNOMED CT to Orphanet simple map | 221145 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | 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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