720831008: Deficiency of cathepsin D (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322216019 Deficiency of cathepsin D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3322217011 Deficiency of cathepsin D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3322218018 Cathepsin D deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

10730691000172113 déficit en cathepsine D fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4491341000172115 deficiëntie van cathepsine D nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4491351000172118 cathepsine D-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4491361000172116 tekort aan cathepsine D nl Synonym (core metadata concept) Active Only initial character 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 D (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Due to	True	Deficiency of cathepsin D (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets