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717003001: Hereditary cavernous hemangioma of brain (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308152011 Hereditary cavernous hemangioma of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308153018 Hereditary cavernous hemangioma of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308154012 Hereditary cavernous haemangioma of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308155013 Familial cerebral cavernous malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401444011 A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401445012 A rare, capillary-venous malformations characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308152011 Hereditary cavernous hemangioma of brain (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308152011 Hereditary cavernous hemangioma of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308153018 Hereditary cavernous hemangioma of brain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308153018 Hereditary cavernous hemangioma of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308154012 Hereditary cavernous haemangioma of brain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308154012 Hereditary cavernous haemangioma of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308155013 Familial cerebral cavernous malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308155013 Familial cerebral cavernous malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308156014 A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308157017 A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401444011 A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401445012 A rare, capillary-venous malformations characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3446061001000119 Zerebrale kavernöse Fehlbildung, hereditäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5477761000241118 hémangiome caverneux héréditaire du cerveau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5477761000241118 hémangiome caverneux héréditaire du cerveau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446061001000119 Zerebrale kavernöse Fehlbildung, hereditäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary cavernous hemangioma of brain (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Is a Cavernous hemangioma of brain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Associated morphology Cavernous hemangioma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary cavernous hemangioma of brain (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary cavernous hemangioma of brain (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary cavernous hemangioma of brain (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary cavernous hemangioma of brain (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cavernous hemangioma of brain (disorder) Associated morphology Cavernous hemangioma true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cavernous hemangioma of brain (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Finding site Intracranial vascular structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cavernous hemangioma of brain (disorder) Is a Benign neoplasm of brain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary cavernous hemangioma of brain (disorder) Is a Diffuse cerebrovascular disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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