Autosomal dominant hereditary disorder	Chronic disease of musculoskeletal system	Chronic disease of skin	Chronic lung disease	Connective tissue hereditary disorder	Disorder of skeletal muscle	Fibrosis of lung	Hereditary disorder of musculoskeletal system	Hereditary myopathy	Hereditary sclerosing poikiloderma	Tendon contracture
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Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)
	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.
	hereditair syndroom van fibroserende poikilodermie, peescontracturen, myopathie en longfibrose
	POIKTMP-syndroom

Id	771306007
Status	Primitive

Associated morphology	Fibrosis
Finding site	Lung structure

Finding site

Skeletal muscle structure

Clinical course

Associated morphology	Contracture
Finding site	Tendon structure

Associated morphology	Poikiloderma
Finding site	Skin structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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