237921002: Disorder of catecholamine synthesis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Disorder of catecholamine synthesis (disorder)

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

356585016 Disorder of catecholamine synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626722012 Disorder of catecholamine synthesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

356585016 Disorder of catecholamine synthesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356585016 Disorder of catecholamine synthesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626722012 Disorder of catecholamine synthesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626722012 Disorder of catecholamine synthesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3385381001000116 Katecholaminsynthesedefekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

942231000172114 anomalie de synthèse des catécholamines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

942231000172114 anomalie de synthèse des catécholamines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3385381001000116 Katecholaminsynthesedefekt 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
Disorder of catecholamine synthesis (disorder)	Is a	Disorder of tyrosine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of catecholamine synthesis (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of catecholamine synthesis (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
déficit en décarboxylase des acides aminés aromatiques	Is a	False	Disorder of catecholamine synthesis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dopamine beta-hydroxylase deficiency	Is a	True	Disorder of catecholamine synthesis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).	Is a	True	Disorder of catecholamine synthesis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets