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1187640000: gecombineerd defect in oxidatieve fosforylering type 28 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4675681016 COXPD28 - combined oxidative phosphorylation defect type 28 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4675682011 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4675685013 Combined oxidative phosphorylation defect type 28 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4675686014 Combined oxidative phosphorylation defect type 28 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
13243211000146110 gecombineerd defect in OXPHOS type 28 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13243221000146117 gecombineerd defect in oxidatieve fosforylering type 28 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13243231000146115 gecombineerd defect in oxidatieve fosforylering type 28 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13243241000146111 ernstige neonatale cardiorespiratoire insufficiëntie door mitochondriaal methyleringsdefect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13243251000146114 COXPD28 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4675684012 A rare mitochondrial disease with characteristics of a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV. 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 28 Is a Mitochondrial cytopathy (disorder) true Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a Hereditary metabolic disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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