783698005: Autosomal dominant spastic paraplegia type 13 (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\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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\Autosomal dominant spastic paraplegia type 13 (disorder)

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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\Autosomal dominant spastic paraplegia type 13 (disorder)
\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\Autosomal dominant spastic paraplegia type 13 (disorder)

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

\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

\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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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\Autosomal dominant spastic paraplegia type 13 (disorder)
\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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of body system\Disorder 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\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\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\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 13 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759763014 Autosomal dominant spastic paraplegia type 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759764015 Autosomal dominant spastic paraplegia type 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3759492012 A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10003271000172112 paraplégie spastique autosomique dominante de type 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4607711000172110 autosomaal dominante spastische paraparese type 13 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4607721000172117 SPG13 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4607731000172119 autosomaal dominante spastische paraplegie type 13 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant spastic paraplegia type 13 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 13 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 13 (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 13 (disorder)	Is a	Autosomal dominant hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 13 (disorder)	Finding site	Lower limb structure (body structure)	false	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 13 (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 13 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Autosomal dominant spastic paraplegia type 13 (disorder)	Interprets	Movement	true	Inferred relationship	Some	6
Autosomal dominant spastic paraplegia type 13 (disorder)	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	4
Autosomal dominant spastic paraplegia type 13 (disorder)	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	5
Autosomal dominant spastic paraplegia type 13 (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 13 (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3759763014	Autosomal dominant spastic paraplegia type 13 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759764015	Autosomal dominant spastic paraplegia type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759492012	A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10003271000172112	paraplégie spastique autosomique dominante de type 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4607711000172110	autosomaal dominante spastische paraparese type 13	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4607721000172117	SPG13	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4607731000172119	autosomaal dominante spastische paraplegie type 13	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)