763367009: Autosomal recessive spastic paraplegia type 48 (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 48
\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 48
\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 48

\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48

\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48
\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 48
\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 48
\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 48

\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 48

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48

\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 48
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\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 48
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 48

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3640234010 Autosomal recessive spastic paraplegia type 48 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3640235011 Autosomal recessive spastic paraplegia type 48 en Synonym Active Case insensitive SNOMED CT core

3640236012 A form of hereditary spastic paraplegia with usual characteristics of a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and Parkinsonism as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging) has also been reported. 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 48	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 48	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 48	Clinical course	Progressive	true	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 48	Finding site	Structure of lower limb	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 48	Interprets	Movement	true	Inferred relationship	Some	6
Autosomal recessive spastic paraplegia type 48	Finding site	Structure of right lower limb	true	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 48	Finding site	Structure of left lower limb	true	Inferred relationship	Some	5
Autosomal recessive spastic paraplegia type 48	Interprets	Movement observable	true	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 48	Has interpretation	Absent	true	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 48	Is a	Hereditary spastic paraplegia	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 48	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 48	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 48	Finding site	Structure of lower limb	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 48	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 48	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 48	Associated morphology	Degeneration	false	Inferred relationship	Some	1

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
3640234010	Autosomal recessive spastic paraplegia type 48 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3640235011	Autosomal recessive spastic paraplegia type 48	en	Synonym	Active	Case insensitive	SNOMED CT core
3640236012	A form of hereditary spastic paraplegia with usual characteristics of a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and Parkinsonism as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging) has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core