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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3514497019 Deficiency of mitochondrial aspartyl-tRNA synthetase en Synonym Active Initial character case insensitive SNOMED CT core
3514498012 Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase en Synonym Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of mitochondrial aspartyl-tRNA synthetase Is a Specific enzyme deficiency true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Due to True Deficiency of mitochondrial aspartyl-tRNA synthetase Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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