1821000146108: Hereditary metabolic disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease

\Metabolic disease\Hereditary metabolic disease

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)

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