124138004: deficiëntie van 20-bètahydroxysteroïddehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of (R)-20-hydroxysteroid dehydrogenase

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

203569010 Deficiency of cortisone reductase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203570011 Deficiency of (R)-20-hydroxysteroid dehydrogenase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727627018 Deficiency of (R)-20-hydroxysteroid dehydrogenase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

9099371000146112 deficiëntie van (R)-20-hydroxysteroïddehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9099391000146111 (R)-20-HSD-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11107881000146114 deficiëntie van cortisonreductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11213241000146110 deficiëntie van 20-bètahydroxysteroïddehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11213251000146113 deficiëntie van 20-bètahydroxysteroïddehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11213261000146111 deficiëntie van 3-alfahydroxysteroïddehydrogenase 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 (R)-20-hydroxysteroid dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of (R)-20-hydroxysteroid dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets