1296861002: deficiëntie van steroldragend eiwit X (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of sterol carrier protein X (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5287370017 SCPX (sterol carrier protein X) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5287371018 Sterol carrier protein-2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5287372013 Deficiency of sterol carrier protein X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287373015 Sterol carrier protein X deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287374014 Deficiency of sterol carrier protein X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287390014 SCPx (sterol carrier protein x) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

14668231000146117 deficiëntie van steroldragend eiwit X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14668241000146113 'sterol carrier protein X'-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14668251000146111 deficiëntie van steroldragend eiwit X (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14668261000146114 SCPx-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (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 sterol carrier protein X (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set