70114006: Poikiloderma (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Degenerative abnormality\Atrophy (morphologic abnormality)\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

116442013 Poikiloderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810135019 Poikiloderma (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2623441000005111 Poikiloderma da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Poikiloderma	Is a	Atrophy (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary acrokeratotic poikiloderma of Weary	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
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.	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Diffuse and macular atrophic dermatosis of Stevanovic	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Acquired poikiloderma	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma of Civatte	Associated morphology	True	Poikiloderma	Inferred relationship	Some	2
Rothmund-Thomson syndrome	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma caused by cold injury	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to heat of infrared radiation therapy (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma caused by photodynamic agent (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to connective tissue disease (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to lichen planus (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Kongenit/genetisk syndrom med poikiloderma	Associated morphology	False	Poikiloderma	Inferred relationship	Some	2
Poikiloderma due to lupus erythematosus	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to scleroderma	Associated morphology	False	Poikiloderma	Inferred relationship	Some	1
Telangiectasia caused by ionizing radiation (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	3
Hereditary sclerosing poikiloderma of Weary (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	2
Poikilodermatous mycosis fungoides (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	2
Kongenit/genetisk syndrom med poikiloderma	Associated morphology	False	Poikiloderma	Inferred relationship	Some	2
Poikiloderma due to lichen planus (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Acquired poikiloderma	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to lupus erythematosus	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to heat of infrared radiation therapy (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Hereditary acrokeratotic poikiloderma of Weary	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma of Weary (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	2
Diffuse and macular atrophic dermatosis of Stevanovic	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to connective tissue disease (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma caused by cold injury	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to scleroderma	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
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.	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma caused by ionizing radiation	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Hereditary sclerosing poikiloderma (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
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.	Associated morphology	True	Poikiloderma	Inferred relationship	Some	3
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Associated morphology	True	Poikiloderma	Inferred relationship	Some	4
A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene.	Associated morphology	True	Poikiloderma	Inferred relationship	Some	2
Poikiloderma caused by photodynamic agent (disorder)	Associated morphology	False	Poikiloderma	Inferred relationship	Some	3
Poikilodermatomyositis	Associated morphology	True	Poikiloderma	Inferred relationship	Some	3
Rothmund Thomson syndrome type 1 (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Rothmund Thomson syndrome type 2	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1
Poikiloderma due to and following radiotherapy (disorder)	Associated morphology	True	Poikiloderma	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
116442013	Poikiloderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
810135019	Poikiloderma (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2623441000005111	Poikiloderma	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)