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1162975000: Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)

Status: current, Not 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
4592709012 Maternally inherited mitochondrial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4592761012 Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4592762017 Maternally inherited mitochondrial deoxyribonucleic acid disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4592835016 Maternally inherited mtDNA (mitochondrial deoxyribonucleic acid) disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a False Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Leber's optic atrophy Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA. Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Maternally inherited mitochondrial myopathy (disorder) Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Maternally inherited mitochondrial cardiomyopathy (disorder) Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some
A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load. Is a True Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Inferred relationship Some

This concept is not in any reference sets

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