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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 (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome
POIKTMP 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.
Id771306007
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van pees
Associated morphologypoikilodermie
Finding sitestructuur van huid
Associated morphologyfibrose
Finding sitestructuur van long
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified