410050000: Clinical manifestation of carnosinase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)\Clinical manifestation of carnosinase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2465501012 Clinical manifestation of carnosinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2471777017 Clinical manifestation of carnosinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2477712013 Clinical manifestation of aminoacyl-histidine dipeptidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2465501012 Clinical manifestation of carnosinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2465501012 Clinical manifestation of carnosinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2471777017 Clinical manifestation of carnosinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2471777017 Clinical manifestation of carnosinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2477712013 Clinical manifestation of aminoacyl-histidine dipeptidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2477712013 Clinical manifestation of aminoacyl-histidine dipeptidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5844421000241115 manifestation clinique d'un déficit en carnosinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5844421000241115 manifestation clinique d'un déficit en carnosinase 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
Clinical manifestation of carnosinase deficiency	Is a	Clinical manifestation of enzyme deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Clinical manifestation of carnosinase deficiency	Due to	Deficiency of aminoacyl-histidine dipeptidase	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carnosinuria (disorder)	Is a	True	Clinical manifestation of carnosinase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnosinemia (disorder)	Is a	True	Clinical manifestation of carnosinase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set