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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive encephalopathy with severe infantile anorexia (disorder) Is a Leucodystrophy true Inferred relationship Some
Progressive encephalopathy with severe infantile anorexia (disorder) Associated morphology Dystrophy false Inferred relationship Some 1
Progressive encephalopathy with severe infantile anorexia (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Some 1
Progressive encephalopathy with severe infantile anorexia (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Progressive encephalopathy with severe infantile anorexia (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
Progressive encephalopathy with severe infantile anorexia (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2
Progressive encephalopathy with severe infantile anorexia (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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