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1821000146108: Hereditary metabolic disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Aug 2022. Module: SNOMED CT core module

Descriptions:

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

727 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 Existential restriction modifier
Hereditary metabolic disease Is a Metabolic disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Alstrom syndrome Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Inborn error of metabolism Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Inherited methylmalonic acidemia AND homocystinuria Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Hereditary xanthinuria Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Citrullinemia Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Inherited disorder of porphyrin metabolism Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Familial benign copper deficiency Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Hereditary hemochromatosis Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Autosomal dominant beta2-microglobulinic amyloidosis Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Hereditary hypertyrosinemia Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Inherited aminoaciduria Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Thymidine kinase 2 deficiency Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier
Leukodystrophy due to alkaline ceramidase 3 deficiency Is a True Hereditary metabolic disease Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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