16279005: Disorder of neurometabolic regulation (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation

\Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation
\Disease\Metabolic disease\Disorder of neurometabolic regulation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

27550013 Disorder of neurometabolic regulation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

743272014 Disorder of neurometabolic regulation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

68711000077119 dysfonctionnement neurométabolique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of neurometabolic regulation	Is a	Functional disease of the CNS with neuroendocrine disturbance	true	Inferred relationship	Some
Disorder of neurometabolic regulation	Is a	Metabolic disease	true	Inferred relationship	Some
Disorder of neurometabolic regulation	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Disorder of neurometabolic regulation	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Disorder of neurometabolic regulation	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Defective osmoregulation	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
Hyperthermia-hyperphagia-hypothyroidism syndrome	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
Hypothalamic obesity	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	True	Disorder of neurometabolic regulation	Inferred relationship	Some

This concept is not in any reference sets