FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

1363509005: Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5449367013 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5449368015 Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5449369011 MT-ATP6 mitochondrial disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease Is a Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) true Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease Is a Mitochondrial cytopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Is a True Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) Is a True Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease Inferred relationship Some

This concept is not in any reference sets

Back to Start