361017005: Deficiency of cathepsin C (disorder)

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

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

477106015 Deficiency of cathepsin C en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

741770011 Deficiency of cathepsin C (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3969443019 Deficiency of dipeptidyl peptidase I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3969444013 Deficiency of dipeptidyl-amino-peptidase I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3969445014 Deficiency of dipeptidyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5630121000172119 déficit en cathepsin C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4752531000172113 tekort aan kathepsine C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4752541000172118 kathepsine C-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4752551000172116 deficiëntie van dipeptidylpeptidase I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4752561000172119 deficiëntie van dipeptidylaminopeptidase I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4752571000172111 deficiëntie van dipeptidyltransferase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set