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111030006: Palmoplantar keratoderma esophageal carcinoma syndrome (disorder)


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
5444516012 A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444517015 A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
175960014 Howel-Evans' syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
357696011 Howel-Evans-Clark syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
357697019 Keratoderma with carcinoma of oesophagus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
357699016 Keratoderma with carcinoma of esophagus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3036100017 Howel Evans syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444510018 Palmoplantar keratoderma esophageal carcinoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444511019 Bennion Patterson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444512014 Palmoplantar keratoderma oesophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444513016 Palmoplantar keratoderma esophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444514010 Tylosis oesophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444515011 Tylosis esophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444518013 Keratosis palmoplantaris esophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444519017 Keratosis palmoplantaris oesophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444520011 Palmoplantar hyperkeratosis esophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444521010 Palmoplantar hyperkeratosis oesophageal carcinoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4748631000241117 syndrome d'Howel-Evans fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453721001000118 Palmoplantarkeratose - Ösophageales Karzinom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Circumscribed palmoplantar keratoderma true Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Diffuse palmoplantar keratoderma false Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure of sole of foot true Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure of palmar area of hand false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Occurrence Congenital false Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology Hyperkeratosis false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology anomalie congénitale false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Has definitional manifestation Abnormal keratinization false Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Hereditary palmoplantar keratoderma false Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Carcinoma of esophagus (disorder) false Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology Carcinoma, no subtype false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Oesophageal structure false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology anomalie congénitale false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure false Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Occurrence Congenital false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology anomalie du développement false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Has interpretation Abnormal false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Interprets Keratinization false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Finding site Skin structure of palmar area of hand true Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology Hyperkeratosis false Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology Focal hyperkeratosis true Inferred relationship Some 2
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Associated morphology Focal hyperkeratosis true Inferred relationship Some 1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a Hereditary cancer-predisposing syndrome true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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