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\Disorder of lung\...

\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome

\Lesion of lung\Fibrosis of lung\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\Disorder of lung\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\Disorder of lung\Lesion of lung\Fibrosis of lung\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Disorder of lung\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\Disorder of lung\Lesion of lung\Fibrosis of lung\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\Disorder of lung\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\Disorder of lung\Lesion of lung\Fibrosis of lung\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\Disorder of lung\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\Disorder of lung\Lesion of lung\Fibrosis of lung\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\Disorder of lung\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung\Lesion of lung\Fibrosis of lung\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Respiratory finding\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Respiratory finding\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\Lesion of lung\Fibrosis of lung\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Respiratory finding\Disorder of respiratory system\Chronic disease of respiratory system\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder\Disorder of tendon\Short tendon\Tendon contracture\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Connective tissue hereditary disorder\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\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of body system\Disorder of respiratory system\Disorder of lower respiratory system\Disorder of lung\Lesion of lung\Fibrosis of lung\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of body system\Disorder of respiratory system\Chronic disease of respiratory system\Chronic lung disease\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\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\Disorder of lung\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\Disorder of lung\Lesion of lung\Fibrosis of lung\Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3705565019 POIKTMP syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3705566018 Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3705567010 POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3705568017 Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Finding site	Lung structure	true	Inferred relationship	Existential restriction modifier	2
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Associated morphology	Fibrosis	true	Inferred relationship	Existential restriction modifier	2
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Chronic disease of respiratory system	false	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Hereditary sclerosing poikiloderma	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Fibrosis of lung	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Chronic disease of skin	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	5
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	4
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Tendon contracture	true	Inferred relationship	Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Finding site	Tendon structure	true	Inferred relationship	Existential restriction modifier	1
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Associated morphology	Poikiloderma	true	Inferred relationship	Existential restriction modifier	3
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	3
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	Is a	Chronic lung disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3705565019	POIKTMP syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3705566018	Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3705567010	POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3705568017	Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module