| hereditair syndroom van fibroserende poikilodermie, peescontracturen, myopathie en longfibrose (aandoening) | | hereditair syndroom van fibroserende poikilodermie, peescontracturen, myopathie en longfibrose | | POIKTMP-syndroom
| | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome | | POIKTMP syndrome
POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome
| | A rare genetic hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12. |
| | Id | 771306007 | | 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 | 221043 |
| 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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