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735422006: Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3514496011 Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3514497019 Deficiency of mitochondrial aspartyl-tRNA synthetase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3514498012 Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5826801000241119 déficit en synthétase mitochondriale d'aspartyl acide ribonucléique de transfert fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5826811000241117 déficit en aspartyl-ARNt synthétase mitochondriale fr 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
Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) Is a Specific enzyme deficiency true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Due to True Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) Inferred relationship Some 1

This concept is not in any reference sets

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