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

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

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 (core metadata concept)
Hereditary metabolic disease	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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

This concept is not in any reference sets