124219002: deficiëntie van squaleenmono-oxygenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of squalene monooxygenase

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

203792013 Deficiency of squalene epoxidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203793015 Deficiency of squalene monooxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727723010 Deficiency of squalene monooxygenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6895781000146119 squaleenmono-oxygenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7121231000146112 deficiëntie van squaleenepoxidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7152741000146117 tekort aan squaleenmono-oxygenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9128251000146117 deficiëntie van squaleenmono-oxygenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9128261000146119 deficiëntie van squaleenmono-oxygenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of squalene monooxygenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of squalene monooxygenase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets