783160006: Hereditary gelsolin amyloidosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis

\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis

\Finding of head and neck region\Head finding (finding)\...

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\Degenerative disorder of eye\...

\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis

\Ocular amyloid deposit\AGel amyloidosis

\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis

\Disease\Genetic disease\Hereditary disease\Hereditary amyloidosis (disorder)\AGel amyloidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\AGel amyloidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\AGel amyloidosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\AGel amyloidosis
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Degenerative disorder\Degenerative disorder of eye\Ocular amyloid deposit\AGel amyloidosis
\Disease\Degenerative disorder\Amyloidosis\Hereditary amyloidosis (disorder)\AGel amyloidosis
\Disease\Degenerative disorder\Amyloidosis\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Degenerative disorder\Amyloidosis\Systemic amyloidosis\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Degenerative disorder\Amyloidosis\Ocular amyloid deposit\AGel amyloidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\AGel amyloidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\AGel amyloidosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\AGel amyloidosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Ocular amyloid deposit\AGel amyloidosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\AGel amyloidosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Ocular amyloid deposit\AGel amyloidosis
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\AGel amyloidosis
\Disease\Systemic disease\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Systemic disease\Systemic amyloidosis\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Amyloidosis of skin\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Systemic disease affecting skin (disorder)\Systemic amyloidosis affecting skin (disorder)\AGel amyloidosis

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
AGel amyloidosis	Associated morphology	Amyloid deposition	true	Inferred relationship	Some	4
AGel amyloidosis	Is a	Hereditary corneal dystrophy	true	Inferred relationship	Some
AGel amyloidosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
AGel amyloidosis	Is a	Ocular amyloid deposit	true	Inferred relationship	Some
AGel amyloidosis	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
AGel amyloidosis	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
AGel amyloidosis	Finding site	Eye structure	true	Inferred relationship	Some	4
AGel amyloidosis	Is a	Hereditary amyloidosis (disorder)	true	Inferred relationship	Some
AGel amyloidosis	Is a	Systemic amyloidosis affecting skin (disorder)	true	Inferred relationship	Some
AGel amyloidosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3
AGel amyloidosis	Finding site	Corneal structure	true	Inferred relationship	Some	1
AGel amyloidosis	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
AGel amyloidosis	Associated morphology	Focal amyloid	true	Inferred relationship	Some	2
AGel amyloidosis	Associated morphology	Amyloid deposition	true	Inferred relationship	Some	3
AGel amyloidosis	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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