737227004: Autosomal dominant hereditary spastic paraplegia (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia
\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 dominant hereditary spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

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

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

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary spastic paraplegia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary spastic paraplegia	Is a	Hereditary spastic paraplegia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary spastic paraplegia	Finding site	Lower limb structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hereditary spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hereditary spastic paraplegia	Associated morphology	Degenerative abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hereditary spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hereditary spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant hereditary spastic paraplegia	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant hereditary spastic paraplegia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal dominant hereditary spastic paraplegia	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal dominant hereditary spastic paraplegia	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Autosomal dominant hereditary spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant hereditary spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant spastic paraplegia type 4 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 10 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 6	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 42 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 12 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 19 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 17 (disorder)	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 3 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 13 (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 38	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 8	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 36	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia with precocious puberty syndrome	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 29	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 9A	Is a	False	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 9B (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 73	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant complex hereditary spastic paraplegia (disorder)	Is a	True	Autosomal dominant hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3527211011	Autosomal dominant hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527212016	Autosomal dominant hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527211011	Autosomal dominant hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527212016	Autosomal dominant hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6006771000241110	paraplégie spastique héréditaire autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6006771000241110	paraplégie spastique héréditaire autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module