congenitale afwezigheid van vingerafdrukken (aandoening) | | congenitale afwezigheid van vingerafdrukken | | geïsoleerde congenitale adermatoglyfie aangeboren afwezigheid van vingerafdrukken immigration delay disease
| | Isolated congenital adermatoglyphia | | Congenital absence of fingerprints Immigration delay disease
| | A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. |
| Id | 763748007 | 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 | 289465 |
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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