424224001: Cytochrome p450 enzyme deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Cytochrome p450 enzyme deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2640223013 Cytochrome p450 enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2644278010 Cytochrome p450 enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2640223013 Cytochrome p450 enzyme deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2640223013 Cytochrome p450 enzyme deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2644278010 Cytochrome p450 enzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2644278010 Cytochrome p450 enzyme deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5293981000241110 déficit en cytochrome p450 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5293981000241110 déficit en cytochrome p450 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
Cytochrome p450 enzyme deficiency (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cytochrome p450 CYP3A enzyme deficiency	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytochrome p450 CYP2D6 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytochrome p450 CYP2C9 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytochrome p450 CYP2C19 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytochrome p450 CYP1A2 enzyme deficiency (disorder)	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytochrome p450 CYP2E1 enzyme deficiency (disorder)	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Due to	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets