733455003: Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Mental disorder\Chronic mental disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Chronic disease\Chronic mental disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499466016 Spastic paraplegia, glaucoma, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499467013 Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3500003016 Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4012371000052118 syndrom med spastisk paraplegi, glaukom och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	mental retardation	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Congenital glaucoma	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	Associated morphology	degeneration	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Lower limb structure	false	Inferred relationship	Some	5
Spastic paraplegia, glaucoma, intellectual disability syndrome	Associated morphology	degeneration	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Eye structure	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Chronic mental disorder	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	Glaucoma	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	Finding site	Lower limb structure	true	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499466016	Spastic paraplegia, glaucoma, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499467013	Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3500003016	Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4012371000052118	syndrom med spastisk paraplegi, glaukom och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)