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1173997008: Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4639180016 Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639181017 Pontine autosomal dominant microangiopathy with leukoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639182012 Pontine autosomal dominant microangiopathy with leucoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639183019 PADMAL - pontine autosomal dominant microangiopathy with leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639184013 PADMAL - pontine autosomal dominant microangiopathy with leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639185014 A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar and cerebellar symptoms among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639186010 A rare genetic cerebral small vessel disease characterised by recurrent ischaemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar and cerebellar symptoms among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leucoencephalopathy of the cerebral hemispheres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Chronic disease of cardiovascular system true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Leukoencephalopathy true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Small vessel cerebrovascular disease (disorder) true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Finding site Cerebrovascular system structure true Inferred relationship Some 2
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Finding site Cerebral white matter structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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