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732952003: Congenital cataract ichthyosis syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498430011 Congenital cataract ichthyosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498431010 Congenital cataract ichthyosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5876171000241117 syndrome de cataracte congénitale et ichtyose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
536941000274114 Syndrom mit Cataracta congenita und Ichthyosis congenita de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603001000274116 Syndrom mit kongentialer Katarakt und Ichthyosis 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
Congenital cataract ichthyosis syndrome Is a Congenital cataract true Inferred relationship Some
Congenital cataract ichthyosis syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract ichthyosis syndrome Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Congenital cataract ichthyosis syndrome Occurrence Congenital true Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Finding site Skin structure false Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Occurrence Congenital false Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Associated morphology Congenital cataract false Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Finding site Lens clear false Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Finding site Skin structure false Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Occurrence Congenital true Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Finding site Lens clear true Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Associated morphology Cataract false Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Has interpretation Abnormal true Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Interprets Keratinization true Inferred relationship Some 3
Congenital cataract ichthyosis syndrome Associated morphology Abnormally opaque structure (morphologic abnormality) true Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Finding site Entire skin true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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