238834002: Hereditary sclerosing poikiloderma (disorder)

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

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Hereditary sclerosing poikiloderma (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary sclerosing poikiloderma (disorder)
\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 (disorder)
\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 (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sclerosing poikiloderma (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hereditary sclerosing poikiloderma (disorder)	Is a	Disorder of skin (disorder)	false	Inferred relationship	Some
Hereditary sclerosing poikiloderma (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Hereditary sclerosing poikiloderma (disorder)	Associated morphology	Poikiloderma	true	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma (disorder)	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 (disorder)	Inferred relationship	Some
A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). Transmission is autosomal recessive.	Is a	True	Hereditary sclerosing poikiloderma (disorder)	Inferred relationship	Some
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.	Is a	True	Hereditary sclerosing poikiloderma (disorder)	Inferred relationship	Some
Hereditary sclerosing poikiloderma of Weary (disorder)	Is a	True	Hereditary sclerosing poikiloderma (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

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
1516801000005118	Hereditær skleroserende poikiloderma	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)