726607007: Autosomal recessive spastic paraplegia type 26 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of both lower limbs\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\...

\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Spastic paraplegia\Hereditary spastic paraplegia\...

\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\...

\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Spastic paraplegia\Hereditary spastic paraplegia\...

\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

\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\Autosomal recessive spastic paraplegia type 26
\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\Autosomal recessive spastic paraplegia type 26
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\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\Autosomal recessive spastic paraplegia type 26
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\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\Autosomal recessive spastic paraplegia type 26
\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\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\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\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\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\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 26

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3450928012 Autosomal recessive spastic paraplegia type 26 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3450929016 Autosomal recessive spastic paraplegia type 26 en Synonym Active Case insensitive SNOMED CT core

3450930014 GM2 synthase deficiency en Synonym Active Case sensitive SNOMED CT core

3450931013 A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive spastic paraplegia type 26	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 26	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Clinical course	Progressive	true	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 26	Interprets	Movement	true	Inferred relationship	Some	6
Autosomal recessive spastic paraplegia type 26	Finding site	Structure of right lower limb	true	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 26	Finding site	Structure of left lower limb	true	Inferred relationship	Some	5
Autosomal recessive spastic paraplegia type 26	Interprets	Movement observable	true	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 26	Has interpretation	Absent	true	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 26	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Finding site	Structure of lower limb	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 26	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 26	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 26	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 26	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 26	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 26	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 26	Finding site	Structure of lower limb	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3450928012	Autosomal recessive spastic paraplegia type 26 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3450929016	Autosomal recessive spastic paraplegia type 26	en	Synonym	Active	Case insensitive	SNOMED CT core
3450930014	GM2 synthase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3450931013	A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	en	Definition	Active	Case sensitive	SNOMED CT core