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783558004: gecombineerd defect in oxidatieve fosforylering type 11 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759344011 Combined oxidative phosphorylation defect type 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759345012 COXPD11 - combined oxidative phosphorylation defect type 11 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759346013 Combined oxidative phosphorylation defect type 11 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
9868441000146119 gecombineerd defect in oxidatieve fosforylering type 11 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9868451000146116 COXPD11 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9868461000146118 gecombineerd defect in oxidatieve fosforylering type 11 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9868471000146112 gecombineerd defect in OXPHOS type 11 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3759347016 A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. 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
Combined oxidative phosphorylation defect type 11 Occurrence Congenital true Inferred relationship Some 1
Combined oxidative phosphorylation defect type 11 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Combined oxidative phosphorylation defect type 11 Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Is a Mitochondrial cytopathy (disorder) true Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Is a Congenital neurological disorder (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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