Chronic metabolic disorder

Code	`128289001`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

7910001241072-methyl-3-hydroxybutyric aciduria disorder

725464001Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy disorder

1222644009Autosomal dominant mitochondrial myopathy with exercise intolerance disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

1186734006Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

1332382002COMMAD syndrome disorder

773492007Childhood-onset spasticity with hyperglycinaemia disorder

1197758001Chronic bilirubin encephalopathy disorder

75066002Chronic cholestatic jaundice syndrome disorder

734019006Chronic diarrhoea with villous atrophy syndrome disorder

1153419002Chronic gout caused by drug disorder

1153420008Chronic gout caused by lead disorder

710733002Chronic gout without tophus disorder

68451005Chronic gouty arthritis disorder

190829000Chronic gouty nephropathy disorder

429428003Chronic hypercapnia disorder

170765005Chronic hyperglycaemia disorder

40777006Chronic hyperkalaemia disorder

12403008Chronic hypernatraemia disorder

78544004Chronic hypertensive uraemia disorder

10469003Chronic hypokalaemia disorder

50327002Chronic hyponatraemia disorder

428173007Chronic hypoxaemic respiratory failure disorder

687808741000119101Chronic metabolic acidosis disorder

57557005Chronic milk alkali syndrome disorder

62201009Chronic non-neuropathic Gaucher's disease disorder

8764008Chronic respiratory acidosis disorder

90616004Chronic respiratory alkalosis disorder

237538007Chronic thyroiditis with transient thyrotoxicosis disorder

73877009Chronic tophaceous gout disorder

1388279003Chronic tubulointerstitial nephritis caused by lead with hyperuricaemia disorder

73281004Chronic zinc deficiency disorder

783176002Congenital muscular dystrophy with cerebellar involvement disorder

783174004Congenital muscular dystrophy with intellectual disability disorder

782772000Congenital muscular dystrophy with intellectual disability and severe epilepsy disorder

783175003Congenital muscular dystrophy without intellectual disability disorder

1367802006Diabetes mellitus due to chronic pancreatitis disorder

771469002Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome disorder

238092004Fish-eye disease disorder

60805002Haemolytic anaemia with emphysema AND cutis laxa disorder

776416004Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome disorder

1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement disorder

6183001Indian childhood cirrhosis disorder

763778003Larsen-like syndrome B3GAT3 type disorder

1234819007Limb girdle muscular dystrophy due to POMK deficiency disorder

1236805005MEPAN syndrome disorder

778048001MT-ATP6-related mitochondrial spastic paraplegia disorder

1230273004Megaconial congenital muscular dystrophy disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

1208621008Multiple mitochondrial dysfunctions syndrome type 4 disorder

1279890001Multiple mitochondrial dysfunctions syndrome type 5 disorder

1279891002Multiple mitochondrial dysfunctions syndrome type 6 disorder

230426003Myoclonic epilepsy with ragged red fibres disorder

237984008NARP syndrome disorder

42012007Neuronal ceroid lipofuscinosis disorder

254122007Osteopetrosis with renal tubular acidosis disorder

1172703004POGLUT1-related limb girdle muscular dystrophy R21 disorder

1228849007Polyglucosan body myopathy type 2 disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

74162007Progressive intrahepatic cholestasis disorder

771305006Progressive polyneuropathy with bilateral striatal necrosis disorder

773576000Progressive retinal dystrophy due to retinol transport defect disorder

1187043002Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome disorder

1255323007Spastic ataxia, dysarthria due to glutaminase deficiency disorder

1360070001Spastic paraparesis, cataracts, speech delay syndrome disorder

Synonyms

Parents (2)

Children (66)