1187279003: Autosomal recessive hereditary spastic paraplegia (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
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia

\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
\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
\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
\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
\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
\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
\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
\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

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

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

\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

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

\Complete bilateral paralysis\Paraplegia\...

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

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

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

Status: current, Defined. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4673099011 Autosomal recessive hereditary spastic paraplegia en Synonym Active Case insensitive SNOMED CT core
4673100015 Autosomal recessive hereditary spastic paraplegia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile ascending hereditary spastic paralysis	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 58	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 70	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 48	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 5A	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 28	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 15	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 35	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 21	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 43	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 62	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 45	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 67	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 59	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 39	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 44	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 46	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 53	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 54	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 32	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 26	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 64	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 63	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 61	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 18	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 25	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 11	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Fryns macrocephaly	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Severe intellectual disability and progressive spastic paraplegia	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 27	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 69	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 71	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 60	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 66	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 14	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 56	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 24	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 76	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 78	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Spastic paraplegia type 7	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 9B	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 75	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 77	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4673099011	Autosomal recessive hereditary spastic paraplegia	en	Synonym	Active	Case insensitive	SNOMED CT core
4673100015	Autosomal recessive hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core