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717052002: maternaal overervende infantiele subacute necrotiserende encefalopathie (aandoening)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308295018 Maternally inherited Leigh syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308296017 Maternally inherited Leigh syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308297014 Maternally inherited Leigh disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308298016 Maternally inherited infantile subacute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308299012 Maternally inherited infantile subacute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13362811000146119 maternaal overervende infantiele subacute necrotiserende encefalopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13362821000146112 maternaal overervende infantiele subacute necrotiserende encefalopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13362851000146115 maternaal overervend Leigh-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3308300016 A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA. 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
Maternally inherited Leigh syndrome (disorder) Is a Leigh's disease true Inferred relationship Some
Maternally inherited Leigh syndrome (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Maternally inherited Leigh syndrome (disorder) Finding site Brain structure true Inferred relationship Some 1
Maternally inherited Leigh syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Maternally inherited Leigh syndrome (disorder) Is a Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Some
Maternally inherited Leigh syndrome (disorder) Occurrence Infancy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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