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719430008: maladie de Leber plus (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316313012 Leber plus disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316314018 Leber plus disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754161000241117 maladie de Leber plus (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
878301000172117 maladie de Leber plus fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
985031000172116 maladie de LHON plus fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3316319011 Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. 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
Leber plus disease (disorder) est un(e) (attribut) Leber's optic atrophy (disorder) true Inferred relationship Some
Leber plus disease (disorder) morphologie associée (attribut) Primary atrophy true Inferred relationship Some 2
Leber plus disease (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Leber plus disease (disorder) localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 2
Leber plus disease (disorder) est un(e) (attribut) Congenital atrophy of optic nerve (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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