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Chronic metabolic disorder 128289001 SNOMED CT code SNOMED code 128289001 name Chronic metabolic disorder status active date introduced 2002-01-31 fully specified name(s) Chronic metabolic disorder (disorder) synonyms Chronic metabolic disease Chronic metabolic disorder attributes - group1 Clinical course Chronic 90734009 parents children 2-methyl-3-hydroxybutyric aciduria 791000124107 Acute intermittent porphyria 234422006 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 725464001 Allan-Herndon-Dudley syndrome 702327009 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 Autosomal dominant mitochondrial myopathy with exercise intolerance 1222644009 Autosomal dominant progressive external ophthalmoplegia 827115000 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 1186734006 Autosomal recessive progressive external ophthalmoplegia 827117008 Childhood-onset spasticity with hyperglycinemia 773492007 Chronic bilirubin encephalopathy 1197758001 Chronic cholestatic jaundice syndrome 75066002 Chronic diarrhea with villous atrophy syndrome 734019006 Chronic gout caused by drug 1153419002 Chronic gout caused by lead 1153420008 Chronic gout without tophus 710733002 Chronic gouty arthritis 68451005 Chronic gouty nephropathy 190829000 Chronic hypercapnia 429428003 Chronic hyperglycemia 170765005 Chronic hyperkalemia 40777006 Chronic hypernatremia 12403008 Chronic hypokalemia 10469003 Chronic hyponatremia 50327002 Chronic hypoxemic respiratory failure 428173007 Chronic milk alkali syndrome 57557005 Chronic non-neuropathic Gaucher's disease 62201009 Chronic primary gouty arthritis 721285007 Chronic respiratory acidosis 8764008 Chronic respiratory alkalosis 90616004 Chronic thyroiditis with transient thyrotoxicosis 237538007 Chronic tophaceous gout 73877009 Chronic viral hepatitis C with hepatic coma 435101000124104 Chronic zinc deficiency 73281004 Congenital muscular dystrophy with cerebellar involvement 783176002 Congenital muscular dystrophy with intellectual disability 783174004 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 Congenital muscular dystrophy without intellectual disability 783175003 Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome 771469002 Fish-eye disease 238092004 Hemolytic anemia with emphysema AND cutis laxa 60805002 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 776416004 Indian childhood cirrhosis 6183001 Intercritical gout 283839008 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 Larsen-like syndrome B3GAT3 type 763778003 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 Megaconial congenital muscular dystrophy 1230273004 MEPAN syndrome 1236805005 Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007 Monoarticular chronic primary gouty arthritis 1153373007 MT-ATP6-related mitochondrial spastic paraplegia 778048001 Multiple mitochondrial dysfunctions syndrome type 4 1208621008 Multiple mitochondrial dysfunctions syndrome type 5 1279890001 Multiple mitochondrial dysfunctions syndrome type 6 1279891002 Myoclonic epilepsy with ragged red fibers 230426003 NARP syndrome 237984008 Neuronal ceroid lipofuscinosis 8 703526007 Osteopetrosis with renal tubular acidosis 254122007 POGLUT1-related limb girdle muscular dystrophy R21 1172703004 Polyglucosan body myopathy type 2 1228849007 Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009 Progressive intrahepatic cholestasis 74162007 Progressive myoclonic epilepsy type 3 783064000 Progressive polyneuropathy with bilateral striatal necrosis 771305006 Progressive retinal dystrophy due to retinol transport defect 773576000 Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome 1187043002 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 27624003 128289001 138875005 404684003 64572001 75934005 128289001 ancestors sorted most to least specific
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