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715794009: 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
3303733010 Progressive encephalopathy with severe infantile anorexia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
3303736019 RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies. en Definition 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
3387311001000119 Ravine-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387311001000119 Ravine-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
RAVINE syndrome Is a Leucodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
RAVINE syndrome Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
RAVINE syndrome Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 1
RAVINE syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
RAVINE syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
RAVINE syndrome Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
RAVINE syndrome Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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