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

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	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cytochrome p450 CYP3A enzyme deficiency (disorder)	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
Cytochrome p450 CYP2D6 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
Cytochrome p450 CYP2C9 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
Cytochrome p450 CYP2C19 enzyme deficiency	Is a	False	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
Cytochrome p450 CYP1A2 enzyme deficiency (disorder)	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
Cytochrome p450 CYP2E1 enzyme deficiency (disorder)	Is a	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency.	Due to	True	Cytochrome p450 enzyme deficiency (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets