41788008: Hereditary factor IX deficiency disease (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

\Hemophilia\Hereditary factor IX deficiency disease

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

69707012 Hemophilia B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

69709010 Hereditary factor IX deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

69710017 Christmas disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

69711018 Sex-linked factor IX deficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

69712013 PTC deficiency disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

493094016 Haemophilia B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

493095015 Congenital factor IX deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2786800010 Hereditary factor IX deficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital factor IX deficiency variant	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Congenital factor IX deficiency with inhibitor	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Acquired factor IX deficiency disease	Is a	False	Hereditary factor IX deficiency disease	Inferred relationship	Some
Congenital factor IX deficiency without inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Hereditary factor IX deficiency disease without inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some
Hereditary factor IX deficiency disease with inhibitor (disorder)	Is a	True	Hereditary factor IX deficiency disease	Inferred relationship	Some

This concept is not in any reference sets