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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (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 optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\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)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\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)
• \Eye / vision finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central 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\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (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 optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (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\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (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\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\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\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
• \Disease\Developmental disorder\Developmental delay\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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