1187279003: Autosomal recessive hereditary spastic paraplegia (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia

\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia

\constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia

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

Descriptions:

Id Description Lang Type Status Case? Module

4673099011 Autosomal recessive hereditary spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673100015 Autosomal recessive hereditary spastic paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hereditary spastic paraplegia	est un(e) (attribut)	paraplégie spastique héréditaire (trouble)	true	Inferred relationship	Some
Autosomal recessive hereditary spastic paraplegia	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hereditary spastic paraplegia	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Autosomal recessive hereditary spastic paraplegia	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	3
Autosomal recessive hereditary spastic paraplegia	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	1
Autosomal recessive hereditary spastic paraplegia	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1

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

This concept is not in any reference sets

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