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717003001: Hereditary cavernous hemangioma of brain (disorder)

Status: current, Defined. 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 Case insensitive SNOMED CT core
3308153018 Hereditary cavernous hemangioma of brain en Synonym Active Case insensitive SNOMED CT core
3308154012 Hereditary cavernous haemangioma of brain en Synonym Active Case insensitive SNOMED CT core
3308155013 Familial cerebral cavernous malformation en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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