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721096008: Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323484018 Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323486016 Diffuse palmoplantar keratoderma and acrocyanosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402611012 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402612017 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323484018 Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323484018 Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323486016 Diffuse palmoplantar keratoderma and acrocyanosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323486016 Diffuse palmoplantar keratoderma and acrocyanosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323487013 Syndrome with the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402611012 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402612017 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395911001000113 Diffuse palmoplantare Keratose-Akrozyanose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963891000172110 syndrome d'hyperkératose palmoplantaire diffuse, acrocyanose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993951000172111 syndrome de kératodermie palmoplantaire diffuse-acrocyanose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963891000172110 syndrome d'hyperkératose palmoplantaire diffuse, acrocyanose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
993951000172111 syndrome de kératodermie palmoplantaire diffuse-acrocyanose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395911001000113 Diffuse palmoplantare Keratose-Akrozyanose-Syndrom 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
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a Acrocyanosis true Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Has definitional manifestation Abnormal keratinization false Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Interprets Keratinisation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 2
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Has interpretation Blue colour true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Interprets Color of skin or mucosa true Inferred relationship Existential restriction modifier (core metadata concept) 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Due to Blood oxygen concentration below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Interprets Color of skin or mucosa true Inferred relationship Existential restriction modifier (core metadata concept) 5
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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