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128289001: Chronic metabolic disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206559011 Chronic metabolic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
206560018 Chronic metabolic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732265017 Chronic metabolic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
206559011 Chronic metabolic disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
206559011 Chronic metabolic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
206560018 Chronic metabolic disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
206560018 Chronic metabolic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732265017 Chronic metabolic disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732265017 Chronic metabolic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
73581000077117 trouble métabolique chronique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
73581000077117 trouble métabolique chronique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

147 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chronic metabolic disorder Is a Chronic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic metabolic disorder Is a Metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic metabolic disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic metabolic disorder Course Chronic (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic metabolic disorder Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic hypokalaemia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Urate nephropathy Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hypernatremia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic anoxic encephalopathy Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hyperkalemia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hyponatraemia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic milk alkali syndrome Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hemolytic anemia with emphysema AND cutis laxa (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic non-neuropathic Gaucher's disease Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic gouty arthritis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic zinc deficiency Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hepatogenous chronic copper poisoning Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic tophaceous gout (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic cholestatic jaundice syndrome Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hypertensive uremia (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory acidosis (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplastic anaemia Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory alkalosis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hyperglycemia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic urate nephropathy (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acute intermittent porphyria Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Saturnine nephropathy Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign recurrent intrahepatic cholestasis (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent severe hypoglycemia (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic coma due to chronic hepatitis B Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hypoxemic respiratory failure (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hypercapnia (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic gout without tophus (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic primary gouty arthritis Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic painful neuropathy due to diabetes mellitus (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Indian childhood cirrhosis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive polyneuropathy with bilateral striatal necrosis (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 3 (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial dementia British type (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with intellectual disability (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy without intellectual disability (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with cerebellar involvement Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
ADan amyloidosis Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis with renal tubular acidosis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic tophaceous gout of shoulder caused by drug (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
North American Indian childhood cirrhosis Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive progressive external ophthalmoplegia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intercritical gout Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic gout caused by drug Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic gout caused by lead Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Monoarticular chronic primary gouty arthritis (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive intrahepatic cholestasis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
POGLUT1-related limb girdle muscular dystrophy R21 Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic bilirubin encephalopathy Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare glycogen storage disease characterised by slowly progressive myopathy with storage of polyglucosan in muscle fibres. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megaconial congenital muscular dystrophy (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Limb girdle muscular dystrophy due to POMK deficiency Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Classical-like Ehlers-Danlos syndrome type 2 Is a False Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fish-eye disease Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chronic thyroiditis with transient thyrotoxicosis Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Chronic metabolic disorder Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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