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1156800008: Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576214016 Autosomal dominant Alzheimer disease with mutation of presenilin 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576888018 Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576889014 Autosomal dominant Alzheimer disease due to mutation of presenilin 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Has interpretation Impaired true Inferred relationship Some 2
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Interprets Cognitive functions true Inferred relationship Some 2
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a Familial Alzheimer's disease of early onset true Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Finding site Cerebrum true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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