238834002: Hereditary sclerosing poikiloderma (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

357950017 Weary-Kindler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

357951018 Hereditary sclerosing poikiloderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

627769014 Hereditary sclerosing poikiloderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6312201000241112 poïkilodermie sclérosante héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sclerosing poikiloderma	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hereditary sclerosing poikiloderma	Is a	Disorder of skin (disorder)	false	Inferred relationship	Some
Hereditary sclerosing poikiloderma	Finding site	Skin structure	false	Inferred relationship	Some
Hereditary sclerosing poikiloderma	Associated morphology	Poikiloderma	true	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma	Finding site	Skin structure	true	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma	Is a	Poikiloderma (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary acrokeratotic poikiloderma of Weary	Is a	True	Hereditary sclerosing poikiloderma	Inferred relationship	Some
A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	Is a	True	Hereditary sclerosing poikiloderma	Inferred relationship	Some
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is 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.	Is a	True	Hereditary sclerosing poikiloderma	Inferred relationship	Some
Hereditary sclerosing poikiloderma of Weary (disorder)	Is a	True	Hereditary sclerosing poikiloderma	Inferred relationship	Some

Reference Sets