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

930401000172118 acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1015971000172112 ernstige neonatale melkzuuracidose door NFS1-ISD11-complexdeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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

Reference Sets

Belgian subset for neonatology in patient health records

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
930401000172118	acidose lactique néonatale sévère par déficit en complexe NFS1-ISD11	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1015971000172112	ernstige neonatale melkzuuracidose door NFS1-ISD11-complexdeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)