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783160006: Hereditary gelsolin amyloidosis (disorder)

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

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

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

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Ocular amyloid deposit\AGel amyloidosis
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Ocular amyloid deposit\AGel amyloidosis
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Ocular amyloid deposit\AGel amyloidosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\AGel amyloidosis

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
651061000274111	Familiäre Amyloidose, finnischer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418141001000111	Agel-Amyloidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306571000241117	amylose à la gelsoline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306581000241115	polyneuropathie amyloïde familiale de type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306591000241118	amyloïdose familiale de type finlandais	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306571000241117	amylose à la gelsoline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306581000241115	polyneuropathie amyloïde familiale de type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306591000241118	amyloïdose familiale de type finlandais	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
651061000274111	Familiäre Amyloidose, finnischer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418141001000111	Agel-Amyloidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module