771306007: Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...
• \Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Viscus structure finding\Lung finding\Pulmonary disease\...
• \Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Tendon finding\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Respiratory finding\Respiratory disease\Chronic disease of respiratory system\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Musculoskeletal finding\Tendon finding\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Degenerative disorder\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Respiratory disease\Chronic disease of respiratory system\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Lesion of lung\Pulmonary fibrosis\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Chronic disease\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Chronic disease\Chronic disease of respiratory system\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Atrophic condition of skin\Poikiloderma\Hereditary sclerosing poikiloderma\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705565019	POIKTMP syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3705566018	Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705567010	POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3705568017	Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705569013	A rare genetic hereditary poikiloderma syndrome characterised 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 lymphoedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and haematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12.	en	Definition	Active	Case sensitive	SNOMED CT core
3705570014	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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