717003001: Hereditary cavernous hemangioma of brain (disorder)

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

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

3854071000052116 hereditärt kavernöst hemangiom i hjärnan sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
3854071000052116	hereditärt kavernöst hemangiom i hjärnan	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)