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1821000146108: Hereditary metabolic disease (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5089667015 Hereditary metabolic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5089668013 Hereditary metabolic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
13773801000172110 hereditaire stofwisselingsstoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13773811000172113 hereditaire stoornis van metabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


729 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
Citrullinemia (disorder) Is a True Hereditary metabolic disease Inferred relationship Some
Inherited disorder of porphyrin metabolism (disorder) Is a True Hereditary metabolic disease Inferred relationship Some
Familial benign copper deficiency Is a True Hereditary metabolic disease Inferred relationship Some
Hereditary hemochromatosis Is a True Hereditary metabolic disease Inferred relationship Some
Autosomal dominant beta2-microglobulinic amyloidosis (disorder) Is a True Hereditary metabolic disease Inferred relationship Some
Hereditary hypertyrosinemia 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
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Is a True Hereditary metabolic disease Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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