776087007: Autosomal recessive cerebral atrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebral atrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive cerebral atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Cerebral atrophy\Autosomal recessive cerebral atrophy

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736330010	Autosomal recessive cerebral atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3736331014	Autosomal recessive cerebral atrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3732000013	A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core
3777366010	A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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