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1821000146108: hereditaire stoornis van metabolisme (aandoening)

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: 30-Sep 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

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
Hereditary metabolic disease	Is a	Metabolic disease	false	Inferred relationship	Some
Hereditary metabolic disease	Is a	Hereditary disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile glycine encephalopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Iron overload related to ferritin heavy chain 1 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 28	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity-onset diabetes of the young, type 11	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity-onset diabetes of the young, type 8 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity-onset diabetes of the young, type 10 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity onset diabetes of the young, type 2 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity-onset diabetes of the young, type 5 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited mitochondrial myopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity onset diabetes of the young, type 1 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mitochondrial phosphate carrier deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maturity-onset diabetes of the young, type 3 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Thymidine kinase 2 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some

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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
9021000146115	Hereditary metabolic disease (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9031000146118	Hereditary metabolic disease	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9041000146114	Hereditary metabolic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
715071000146118	hereditaire stofwisselingsstoornis (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
715081000146116	hereditaire stofwisselingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7987871000146110	hereditaire stoornis van metabolisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8004251000146112	hereditaire stoornis van metabolisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)