697899000: hereditaire pulmonale arteriële hypertensie door BMPR2-mutatie (aandoening)

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

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Pulmonary artery finding\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation

\General finding of soft tissue\Blood vessel finding\Arterial finding\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\General finding of soft tissue\Blood vessel finding\Arterial finding\Pulmonary artery finding\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Blood vessel finding\Arterial finding\Pulmonary artery finding\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of blood vessels of thorax (disorder)\Disorder of pulmonary circulation\Pulmonary hypertension\Precapillary pulmonary hypertension\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Pulmonary hypertensive arterial disease (disorder)\Heritable pulmonary arterial hypertension\Heritable pulmonary arterial hypertension due to BMPR2 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heritable pulmonary arterial hypertension due to BMPR2 mutation	Is a	Heritable pulmonary arterial hypertension	true	Inferred relationship	Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation	Finding site	Pulmonary artery structure	true	Inferred relationship	Some	1
Heritable pulmonary arterial hypertension due to BMPR2 mutation	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Heritable pulmonary arterial hypertension due to BMPR2 mutation	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2968111017	Heritable pulmonary arterial hypertension due to BMPR2 mutation (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2968120014	Heritable pulmonary arterial hypertension due to BMPR2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008434016	Heritable pulmonary arterial hypertension due to bone morphogenetic protein receptor type II mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008454015	Heritable pulmonary arterial hypertension due to bone morphogenetic protein receptor type II mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6361411000146117	hereditaire pulmonale arteriële hypertensie door BMPR2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361421000146110	hereditaire pulmonale arteriële hypertensie door BMPR2-mutatie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361431000146112	erfelijke PAH door mutatie in 'bone morphogenetic protein receptor type II'	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)