1172593006: Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Neurological finding\Cranial nerve finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \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\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634518013	Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634519017	Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634521010	A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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