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
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
2-hydroxyglutaric aciduria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary fructosuria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of phosphomannomutase 2 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Tyrosinemia type III (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of steroid 17-alpha-monooxygenase	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
hereditaire sideroblastische anemie	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant beta2-microglobulinic amyloidosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial hypertryptophanemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperprolinemia type 2 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Virilisation-adrenogenital syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Homocystinuria without methylmalonic aciduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
X-linked creatine deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hawkinsinuria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Dihydropyrimidine dehydrogenase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Icelandic type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Isolated hyperchlorhidrosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Placental sulfatase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial amyloid polyneuropathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Childhood myocerebrohepatopathy spectrum (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial Mediterranean fever	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital bile acid synthesis defect type 3 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Sucrase-isomaltase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hepatic lipase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Adenosine deaminase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary acrodermatitis enteropathica	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Bartter syndrome type 4a (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperuricemia, anemia, renal failure syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of steroid 11-beta-monooxygenase	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Beta-aminoisobutyric aciduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Essential benign fructosuria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary cerebral amyloid angiopathy, Dutch type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial hypokalemic alkalosis, Gullner type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Cytochrome P450 oxidoreductase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Inherited aminoaciduria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant optic atrophy plus syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital lactase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital analbuminemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Alstrom syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Lipid proteinosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Wilson's disease	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Orotic aciduria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypotonia cystinuria syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of AMP pyrophorylase	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
syndroom van epilepsie, ataxie, perceptief gehoorverlies en tubulopathie (aandoening)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of phosphoserine aminotransferase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Basal epidermolysis bullosa simplex (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deficiency of dimethylglycine dehydrogenase (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Zellweger-like syndrome without peroxisomal anomaly (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary oculoleptomeningeal amyloid angiopathy	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-Methylglutaconic aciduria type 1	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Dystrophic epidermolysis bullosa nails only (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
geïsoleerde xanthineoxidasedeficiëntie	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Glucose transporter protein type 1 deficiency syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Transcobalamin II deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
MEHMO syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Lathosterolosis (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypomagnesemia co-occurrent with normocalciuria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	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)