1217370006: Laminin subunit alpha 5-related multisystemic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\LAMA5-related multisystemic syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome

\Central nervous system finding\Disorder of the central nervous system\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome

\Disorder of visual pathways\LAMA5-related multisystemic syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\LAMA5-related multisystemic syndrome
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\LAMA5-related multisystemic syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\LAMA5-related multisystemic syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\LAMA5-related multisystemic syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome

\Muscle finding\Myopathy\Degenerative disorder of muscle\LAMA5-related multisystemic syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\LAMA5-related multisystemic syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\LAMA5-related multisystemic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\LAMA5-related multisystemic syndrome
\Disease\Degenerative disorder\Degenerative disorder of muscle\LAMA5-related multisystemic syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\LAMA5-related multisystemic syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\LAMA5-related multisystemic syndrome
\Disease\Myopathy\Degenerative disorder of muscle\LAMA5-related multisystemic syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\LAMA5-related multisystemic syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\LAMA5-related multisystemic syndrome
\Disease\Systemic disease\Systemic disease affecting skin\LAMA5-related multisystemic syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Dermatosis of infancy\LAMA5-related multisystemic syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Systemic disease affecting skin\LAMA5-related multisystemic syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5036020015 LAMA5-related multisystemic syndrome en Synonym Active Case sensitive SNOMED CT core

5036021016 Laminin subunit alpha 5-related multisystemic syndrome en Synonym Active Case insensitive SNOMED CT core

5036022011 Laminin subunit alpha 5-related multisystemic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5036023018 A rare genetic systemic or rheumatologic disease with characteristics of infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
LAMA5-related multisystemic syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Systemic disease affecting skin	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Dermatosis of infancy	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Degenerative disorder of muscle	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Disorder of visual pathways	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	Degeneration of retina	true	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Occurrence	Infancy	true	Inferred relationship	Some	3
LAMA5-related multisystemic syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
LAMA5-related multisystemic syndrome	Finding site	Neuroepithelial layer	true	Inferred relationship	Some	1
LAMA5-related multisystemic syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
LAMA5-related multisystemic syndrome	Finding site	Muscle structure	true	Inferred relationship	Some	2
LAMA5-related multisystemic syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5036020015	LAMA5-related multisystemic syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5036021016	Laminin subunit alpha 5-related multisystemic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5036022011	Laminin subunit alpha 5-related multisystemic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5036023018	A rare genetic systemic or rheumatologic disease with characteristics of infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men.	en	Definition	Active	Case sensitive	SNOMED CT core