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715794009: Progressive encephalopathy with severe infantile anorexia (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3303734016 Progressive encephalopathy with severe infantile anorexia en Synonym Active Case insensitive SNOMED CT core
3303735015 RAVINE syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
RAVINE syndrome Is a Leucodystrophy true Inferred relationship Some
RAVINE syndrome Associated morphology Dystrophy false Inferred relationship Some 1
RAVINE syndrome Associated morphology Myelin sheath alteration true Inferred relationship Some 1
RAVINE syndrome Finding site Structure of nervous system false Inferred relationship Some 1
RAVINE syndrome Associated morphology Dystrophy true Inferred relationship Some 2
RAVINE syndrome Finding site White matter structure of brain and spinal cord true Inferred relationship Some 2
RAVINE syndrome Finding site Myelinated nerve fibre structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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