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783160006: Hereditary gelsolin amyloidosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757887011 Hereditary gelsolin amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757888018 Familial amyloidosis Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757889014 AGel amyloidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757890017 Hereditary amyloidosis Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757891018 Familial amyloid polyneuropathy type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757892013 Hereditary gelsolin amyloidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757893015 Gelsolin amyloidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3788703014 Lattice corneal dystrophy type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757894014 A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). en Definition 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
AGel amyloidosis morphologie associée (attribut) Amyloid deposition true Inferred relationship Some 4
AGel amyloidosis est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
AGel amyloidosis est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
AGel amyloidosis est un(e) (attribut) Ocular amyloid deposit true Inferred relationship Some
AGel amyloidosis est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
AGel amyloidosis est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
AGel amyloidosis localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 4
AGel amyloidosis est un(e) (attribut) Hereditary amyloidosis (disorder) true Inferred relationship Some
AGel amyloidosis est un(e) (attribut) Systemic amyloidosis affecting skin (disorder) true Inferred relationship Some
AGel amyloidosis localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 3
AGel amyloidosis localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 1
AGel amyloidosis morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
AGel amyloidosis morphologie associée (attribut) Focal amyloid (morphologic abnormality) true Inferred relationship Some 2
AGel amyloidosis morphologie associée (attribut) Amyloid deposition true Inferred relationship Some 3
AGel amyloidosis localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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