773423007: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)

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

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal acidosis (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal acidosis (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal acidosis (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
\Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Neonatal acidosis (disorder)\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
\Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (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

3723499010 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3723500018 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3723501019 A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3723502014 A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4215031000052115 svår neonatal laktacidos orsakad av brist på NFS1-ISD11-komplex sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	Lactic acidosis	true	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	Neonatal acidosis (disorder)	true	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Due to	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some	2
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723499010	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723500018	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723501019	A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723502014	A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4215031000052115	svår neonatal laktacidos orsakad av brist på NFS1-ISD11-komplex	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)