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312514006: Netherton 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
456246014 Netherton's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
456247017 Comel-Netherton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
456248010 Axial osteosclerosis with bamboo hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
456250019 Netherton syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5406624014 Netherton syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Netherton syndrome Is a Cutaneous syndrome with ichthyosis true Inferred relationship Some
Netherton syndrome Finding site Hair appendage structure false Inferred relationship Some 2
Netherton syndrome Occurrence Congenital false Inferred relationship Some
Netherton syndrome Finding site Structure of skin region false Inferred relationship Some
Netherton syndrome Is a Disorder of skin appendage false Inferred relationship Some
Netherton syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
Netherton syndrome Is a Site-specific disorder of skin false Inferred relationship Some
Netherton syndrome Finding site Skin structure false Inferred relationship Some 1
Netherton syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
Netherton syndrome Finding site Skin structure false Inferred relationship Some 1
Netherton syndrome Occurrence Congenital false Inferred relationship Some 2
Netherton syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Netherton syndrome Finding site Skin structure false Inferred relationship Some 2
Netherton syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Netherton syndrome Occurrence Congenital true Inferred relationship Some 1
Netherton syndrome Associated morphology Hyperkeratosis true Inferred relationship Some 1
Netherton syndrome Has interpretation Abnormal true Inferred relationship Some 3
Netherton syndrome Interprets Keratinization true Inferred relationship Some 3
Netherton syndrome Finding site Entire skin true Inferred relationship Some 1
Netherton syndrome Is a Hyperimmunoglobulin E syndrome true Inferred relationship Some
Netherton syndrome Is a Congenital immunodeficiency disease true Inferred relationship Some
Netherton syndrome Is a Hereditary disorder of immune system true Inferred relationship Some
Netherton syndrome Is a Autosomal recessive ichthyosis (disorder) true Inferred relationship Some
Netherton syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 5
Netherton syndrome Interprets Immunoglobulin E measurement true Inferred relationship Some 4
Netherton syndrome Has interpretation Above reference range true Inferred relationship Some 4
Netherton syndrome Is a Bamboo hair true Inferred relationship Some
Netherton syndrome Is a Genetic defect of hair shaft (disorder) true Inferred relationship Some
Netherton syndrome Finding site Hair shaft structure 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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