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1366635006: Polycystic liver disease-3 due to heterozygous mutation of ALG8 alpha-1,3-glucosyltransferase gene (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5460915016 Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5460916015 Polycystic liver disease-3 due to heterozygous mutation of ALG8 alpha-1,3-glucosyltransferase gene en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5460917012 Polycystic liver disease-3 due to heterozygous mutation of ALG8 alpha-1,3-glucosyltransferase gene (disorder) en Fully specified name 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
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene Is a Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). true Inferred relationship Some
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene Finding site Liver structure true Inferred relationship Some 1
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene Associated morphology Polycystic change 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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