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1821000146108: Hereditary metabolic disease (disorder)

Status: current, Primitive. Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5089667015 Hereditary metabolic disease en Synonym Active Case insensitive SNOMED CT core
5089668013 Hereditary metabolic disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

725 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary metabolic disease Is a Hereditary disease true Inferred relationship Some
Hereditary metabolic disease Is a Metabolic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Alstrom syndrome Is a True Hereditary metabolic disease Inferred relationship Some
Inborn error of metabolism Is a True Hereditary metabolic disease Inferred relationship Some
Inherited methylmalonic acidaemia AND homocystinuria Is a True Hereditary metabolic disease Inferred relationship Some
Hereditary xanthinuria Is a True Hereditary metabolic disease Inferred relationship Some
Citrullinaemia Is a True Hereditary metabolic disease Inferred relationship Some
Inherited disorder of porphyrin metabolism Is a True Hereditary metabolic disease Inferred relationship Some
Familial benign copper deficiency Is a True Hereditary metabolic disease Inferred relationship Some
Hereditary haemochromatosis Is a True Hereditary metabolic disease Inferred relationship Some
Autosomal dominant beta2-microglobulinic amyloidosis Is a True Hereditary metabolic disease Inferred relationship Some
Hereditary hypertyrosinaemia Is a True Hereditary metabolic disease Inferred relationship Some
Inherited aminoaciduria Is a True Hereditary metabolic disease Inferred relationship Some
Thymidine kinase 2 deficiency Is a True Hereditary metabolic disease Inferred relationship Some
Alkaline ceramidase 3 deficiency Is a True Hereditary metabolic disease Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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