234444001: Congenital factor IX deficiency variant (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Functional finding\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\...

\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant

\Hemophilia\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Factor IX deficiency (disorder)\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant
\Disease\Disorder of hemostatic system\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hemophilia\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant
\Disease\Congenital disease (disorder)\Hereditary factor IX deficiency disease\Congenital factor IX deficiency variant

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

351266019 Congenital factor IX deficiency variant en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
622763015 Congenital factor IX deficiency variant (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
127141000077117 variante de déficience congénitale en facteur IX fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital factor IX deficiency variant	Is a	Hereditary factor IX deficiency disease	true	Inferred relationship	Some
Congenital factor IX deficiency variant	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
Congenital factor IX deficiency variant	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital factor IX deficiency variant	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital factor IX deficiency variant	Finding site	Body system structure	false	Inferred relationship	Some
Congenital factor IX deficiency variant	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Congenital factor IX deficiency variant	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Congenital factor IX deficiency variant	Interprets	Hemostatic function	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set