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
Hyperphosphatasaemia with intellectual disability	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Cutis laxa, autosomal recessive	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hemochromatosis type 3 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant hypocalcemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Galactosylceramide beta-galactosidase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Cholestanol storage disease	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pseudohypoaldosteronism, type 1, recessive form	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of glucosyltransferase 1	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mevalonic aciduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Inborn error of metabolism	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
CAH - desmolase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pseudohypoaldosteronism, type 1, dominant form	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Acute intermittent porphyria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-Methylglutaconic aciduria type 3	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
X-linked sideroblastic anemia with spinocerebellar ataxia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-methylglutaconic aciduria type 5 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of 11-beta hydroxysteroid dehydrogenase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Transthyretin related familial amyloid cardiomyopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of aminoacylase 1 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary gastrogenic lactose intolerance	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial primary hypomagnesemia with normocalciuria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Brain dopamine-serotonin vesicular transport disease (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Exercise-induced hyperinsulinism (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of phosphoadenosine-phosphosulfate reductase 2 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
hereditaire nefrogene diabetes insipidus (aandoening)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Cutis laxa, autosomal dominant (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
'lattice'-corneadystrofie type 2 (aandoening)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited mitochondrial dystonia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Citrullinemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Interleukin-1 receptor-associated kinase 4 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Beta-propeller protein-associated neurodegeneration (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Infantile onset spinocerebellar ataxia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Laminopathy type Decaudain Vigouroux	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 8 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial hypercholanemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Coenzyme A synthase protein associated neurodegeneration (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary amyloidosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Transient bullous dermolysis of newborn (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 5 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Abetalipoproteinaemia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
SCARF syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Stimmler syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary coproporphyria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Vitamin D-dependent rickets	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 4	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with late-onset spasticity	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Insulin resistance - type A	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypermanganesemia with dystonia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 15 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 13 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
X chromosome-linked sideroblastic anemia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial benign copper deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-methylglutaconic aciduria type 7 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 9 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (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)