124600004: Deficiency of aromatic-L-amino-acid decarboxylase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of lyase\Deficiency of aromatic-L-amino-acid decarboxylase

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

204713014 Deficiency of tryptophan decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204714015 Deficiency of hydroxytryptophan decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204715019 Deficiency of dopa decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204716018 Deficiency of aromatic-L-amino-acid decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728314012 Deficiency of aromatic-L-amino-acid decarboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204713014 Deficiency of tryptophan decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204713014 Deficiency of tryptophan decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204714015 Deficiency of hydroxytryptophan decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204714015 Deficiency of hydroxytryptophan decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204715019 Deficiency of dopa decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204715019 Deficiency of dopa decarboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204716018 Deficiency of aromatic-L-amino-acid decarboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728314012 Deficiency of aromatic-L-amino-acid decarboxylase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3448011001000116 Aromatische-L-Aminosäuredecarboxylase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4775861000241117 déficit en aromatic-L-amino-acide decarboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4775861000241117 déficit en aromatic-L-amino-acide decarboxylase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3448011001000116 Aromatische-L-Aminosäuredecarboxylase-Mangel 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
Deficiency of aromatic-L-amino-acid decarboxylase	Is a	Specific enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of aromatic-L-amino-acid decarboxylase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of aromatic-L-amino-acid decarboxylase	Is a	Deficiency of lyase	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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).	Due to	True	Deficiency of aromatic-L-amino-acid decarboxylase	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets