264572004: Single gene defect (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Special atomic mapping values\Special disorder atoms\Pathogeneses\Single gene defect

\Descriptor\Pathogeneses\Single gene defect
\Descriptor\Origins\Single gene defect

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

393051010 Single gene defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

656842014 Single gene defect (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

393051010 Single gene defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

393051010 Single gene defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

656842014 Single gene defect (qualifier value) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

656842014 Single gene defect (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

140771000077113 anomalie liée à un seul gène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

140771000077113 anomalie liée à un seul gène fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Single gene defect	Is a	Origins	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Single gene defect	Is a	Pathogeneses	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets