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

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\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 optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\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
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Central nervous system finding\Disorder of the central nervous system\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
\Central nervous system finding\Disorder of the central nervous system\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

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

\Disorder of head\Disorder of brain\...

\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\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
\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
\Eye / vision finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Neurological finding\Cranial nerve finding\Second cranial nerve finding\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

\Disease\Genetic disease\Hereditary disease\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
\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
\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\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
\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
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of body system\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
\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
\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
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\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
\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
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\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
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\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
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous 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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\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
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
\Disease\Developmental disorder\Developmental delay\Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome

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

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 SNOMED CT core module

4634519017 Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Second cranial nerve finding	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Hereditary optic atrophy	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Cerebral atrophy	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	2
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Associated morphology	Primary atrophy	true	Inferred relationship	Existential restriction modifier	2
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	Associated morphology	Diffuse atrophy	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
4634519017	Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module