FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

775908005: Combined oxidative phosphorylation defect type 17 (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3736321019 COXPD17 - combined oxidative phosphorylation defect type 17 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736322014 Combined oxidative phosphorylation defect type 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736323016 Combined oxidative phosphorylation defect type 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3731999019 A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736321019 COXPD17 - combined oxidative phosphorylation defect type 17 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736322014 Combined oxidative phosphorylation defect type 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736323016 Combined oxidative phosphorylation defect type 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3731999019 A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415871001000116 Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890301000172111 COXPD17 - combined oxidative phosphorylation defect type 17 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925771000172111 déficit combiné de la phosphorylation oxydative type 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890301000172111 COXPD17 - combined oxidative phosphorylation defect type 17 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925771000172111 déficit combiné de la phosphorylation oxydative type 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415871001000116 Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined oxidative phosphorylation defect type 17 (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined oxidative phosphorylation defect type 17 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 17 (disorder) Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 17 (disorder) Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Combined oxidative phosphorylation defect type 17 (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined oxidative phosphorylation defect type 17 (disorder) Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 17 (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start