234444001: variant van congenitale stollingsfactor IX-deficiëntie (aandoening)

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 foetus and/or newborn\Congenital disease (disorder)\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

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

6118631000146111 variant van congenitale factor IX-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6119081000146112 variant van aangeboren factor IX-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9891151000146116 variant van congenitale stollingsfactor IX-deficiëntie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9893251000146113 variant van congenitale stollingsfactor IX-deficiëntie nl Synonym (core metadata concept) Active Only initial character 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
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