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718631006: Annular epidermolytic ichthyosis (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
3313006014 Annular epidermolytic ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313007017 Annular epidermolytic ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401799015 A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401800016 A rare clinical variant of epidermolytic ichthyosis (EI) characterised by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3313006014 Annular epidermolytic ichthyosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313006014 Annular epidermolytic ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313007017 Annular epidermolytic ichthyosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313007017 Annular epidermolytic ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313008010 A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401799015 A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401800016 A rare clinical variant of epidermolytic ichthyosis (EI) characterised by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432941001000119 Ichthyose, anuläre epidermolytische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971141000172119 AEI - annular epidermolytic ichthyosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971391000172110 ichtyose épidermolytique annulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971141000172119 AEI - annular epidermolytic ichthyosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
971391000172110 ichtyose épidermolytique annulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432941001000119 Ichthyose, anuläre epidermolytische 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
Annular epidermolytic ichthyosis (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Annular epidermolytic ichthyosis (disorder) Is a Bullous ichthyosiform erythroderma true Inferred relationship Existential restriction modifier (core metadata concept)
Annular epidermolytic ichthyosis (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Associated morphology Blister (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Annular epidermolytic ichthyosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Annular epidermolytic ichthyosis (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Annular epidermolytic ichthyosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Annular epidermolytic ichthyosis (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Annular epidermolytic ichthyosis (disorder) Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Annular epidermolytic ichthyosis (disorder) Finding site Entire skin true Inferred relationship Existential restriction modifier (core metadata concept) 1
Annular epidermolytic ichthyosis (disorder) Is a Bullous dermatosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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