724279004: Combined oxidative phosphorylation defect type 5 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia.

\Metabolic disease\Mitochondrial cytopathy\This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5403298017 This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403299013 This syndrome is characterised by severe hypotonia, lactic acidaemia and congenital hyperammonaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433539014 Combined oxidative phosphorylation defect type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433540011 Combined oxidative phosphorylation defect type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433541010 COXPD5 - combined oxidative phosphorylation defect 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433542015 Hypotonia with lactic acidemia and hyperammonemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433543013 Hypotonia with lactic acidaemia and hyperammonaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5916161000241112 déficit combiné de la phosphorylation oxydative de type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5916171000241116 COXPD5 - combined oxidative phosphorylation defect type 5 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3422971001000114 Hypotonie mit Laktatazidose und Hyperammonämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia.	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)