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
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Double heterozygous familial hypercholesterolaemia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 2	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 7 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 21	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperzincemia and hypercalprotectinemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Methylmalonic aciduria due to transcobalamin receptor defect (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Progressive polyneuropathy with bilateral striatal necrosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 17 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
NUDT15 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Stewart-Morel-Morgagni syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive infantile hypercalcemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Cystinuria, type 1	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation defect type 14	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Brittle cornea syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome classic type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome vascular-like type	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hyperandrogenism due to cortisone reductase deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
2-aminoadipic 2-oxoadipic aciduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Congenital end-plate acetylcholinesterase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Combined oxidative phosphorylation deficiency type 20 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Erythropoietic uroporphyria associated with myeloid malignancy	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive optic atrophy type 7 (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Beta-mercaptolactate cysteine disulfiduria (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial porphyria cutanea tarda	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary hypertyrosinemia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Partial androgen insensitivity syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
ADan amyloidosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Neu-Laxova syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary hyperhomocysteinemia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
North American Indian childhood cirrhosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary xanthinuria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Hereditary hemochromatosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Lowe syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial dementia British type (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Autosomal recessive progressive external ophthalmoplegia	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Renal tubular acidosis with progressive nerve deafness	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Inherited methylmalonic acidaemia AND homocystinuria	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Wolfram syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Selective malabsorption of cyanocobalamin	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Bartter syndrome (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Diabetes mellitus associated with cystic fibrosis	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Enamel-renal syndrome	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Syndrome of apparent mineralocorticoid excess	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
fenylketonurie door deficiëntie van tetrahydrobiopterine	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Is a	False	Hereditary metabolic disease	Inferred relationship	Some
Infantile glycine encephalopathy (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
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)
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)