FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

28293008: Hereditary factor VIII deficiency disease (disorder)

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

\Functional finding\Blood coagulation disorder\Coagulation factor deficiency syndrome\...

\Factor VIII deficiency\Hereditary factor VIII deficiency disease (disorder)

\Hemophilia\Hereditary factor VIII deficiency disease (disorder)

\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease (disorder)

\Disease\Genetic disease\Hereditary disease\X-linked hereditary disease\Hereditary factor VIII deficiency disease (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease (disorder)
\Disease\Blood coagulation disorder\Coagulation factor deficiency syndrome\Factor VIII deficiency\Hereditary factor VIII deficiency disease (disorder)
\Disease\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hemophilia\Hereditary factor VIII deficiency disease (disorder)
\Disease\Blood coagulation disorder\Coagulation factor deficiency syndrome\Hereditary coagulation factor deficiency\Hereditary factor VIII deficiency disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary factor VIII deficiency disease (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Hereditary factor VIII deficiency disease (disorder)	Is a	Hereditary coagulation factor deficiency	true	Inferred relationship	Some
Hereditary factor VIII deficiency disease (disorder)	Is a	Factor VIII deficiency	true	Inferred relationship	Some
Hereditary factor VIII deficiency disease (disorder)	Is a	Hemophilia	true	Inferred relationship	Some
Hereditary factor VIII deficiency disease (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Hereditary factor VIII deficiency disease (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
47356012	Hemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
47359017	Hereditary factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
47360010	Classical hemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
47361014	AHG deficiency disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
47362019	Sex-linked factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
47363012	Congenital factor VIII deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
483814018	Haemophilia A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
483815017	Classical haemophilia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
1225870016	Congenital factor VIII deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
2787090010	Hereditary factor VIII deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	IPS terminology module (core metadata concept)