715794009: Progressive encephalopathy with severe infantile anorexia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Neurological lesion\Leucodystrophy\Progressive encephalopathy with severe infantile anorexia (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Progressive encephalopathy with severe infantile anorexia (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Progressive encephalopathy with severe infantile anorexia (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Progressive encephalopathy with severe infantile anorexia (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\Leucodystrophy\Progressive encephalopathy with severe infantile anorexia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303733010	Progressive encephalopathy with severe infantile anorexia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303734016	Progressive encephalopathy with severe infantile anorexia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303735015	RAVINE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401096019	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401097011	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterised by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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