723826007: paraplégie spastique autosomique récessive type 57 (trouble)

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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\constatation à propos des yeux ou de la vue\affection du système visuel\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\Disorder of visual pathways (disorder)\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\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)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\paraplégie spastique autosomique récessive type 57

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1008901000172114 paraplégie spastique autosomique récessive type 57 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3426280017 Autosomal recessive spastic paraplegia type 57 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3426281018 Autosomal recessive spastic paraplegia type 57 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3426282013 Spastic paraplegia due to partial TFG deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

759991000241113 paraplégie spastique autosomique récessive type 57 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

959481000172119 paraplégie spastique par déficit partiel en TFG fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3426283015 An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
paraplégie spastique autosomique récessive type 57	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	4
paraplégie spastique autosomique récessive type 57	morphologie associée (attribut)	Primary atrophy	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	Optic nerve structure	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
paraplégie spastique autosomique récessive type 57	est un(e) (attribut)	SPOAN and SPOAN-related disorder	true	Inferred relationship	Some
paraplégie spastique autosomique récessive type 57	survenue (attribut)	congénital	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	Optic nerve structure	true	Inferred relationship	Some	2
paraplégie spastique autosomique récessive type 57	morphologie associée (attribut)	Primary atrophy	true	Inferred relationship	Some	2
paraplégie spastique autosomique récessive type 57	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
paraplégie spastique autosomique récessive type 57	est un(e) (attribut)	Complicated hereditary spastic paraplegia	false	Inferred relationship	Some
paraplégie spastique autosomique récessive type 57	survenue (attribut)	congénital	false	Inferred relationship	Some
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some
paraplégie spastique autosomique récessive type 57	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	3
paraplégie spastique autosomique récessive type 57	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
paraplégie spastique autosomique récessive type 57	survenue (attribut)	congénital	false	Inferred relationship	Some	1
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	1
paraplégie spastique autosomique récessive type 57	survenue (attribut)	congénital	false	Inferred relationship	Some	2
paraplégie spastique autosomique récessive type 57	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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Id	Description	Lang	Type	Status	Case?	Module
1008901000172114	paraplégie spastique autosomique récessive type 57	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3426280017	Autosomal recessive spastic paraplegia type 57 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426281018	Autosomal recessive spastic paraplegia type 57	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426282013	Spastic paraplegia due to partial TFG deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
759991000241113	paraplégie spastique autosomique récessive type 57 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
959481000172119	paraplégie spastique par déficit partiel en TFG	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3426283015	An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core