Alpers-Huttenlocher syndrome

Preferred Label : Alpers-Huttenlocher syndrome;

ICD-11 definition : Alpers syndrome is a cerebrohepatopathy and developmental, mitochondrial DNA depletion syndrome characterized by the clinical triad of psychomotor regression, seizures, and liver disease.;

ICD-11 synonym : Progressive neuronal degeneration of childhood with liver disease; Alpers syndrome; Alpers disease; Alpers progressive sclerosing poliodystrophy;

Details

Origin ID

664465901;

Currated CISMeF NLP mapping
- Alper Syndrome [NCIt concept]
- Alpers disease [PASCAL descriptor]
- Alpers disease [MedDRA Preferred Term]
- Alpers syndrome [DO Concept]
- Alpers' disease [MedDRA LLT]
- Alpers-Huttenlocher syndrome [ORDO Disease]
- Alpers-Huttenlocher syndrome [DO Concept]
- Diffuse Cerebral Sclerosis of Schilder [NCIt concept]
- Mitochondrial dna depletion syndrome 4a (alpers type) [OMIM Phenotype]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- alpers syndrome [MeSH concept]
- alpers' disease [MedDRA Preferred Term]
- diffuse cerebral sclerosis of schilder [MeSH Descriptor]
- progressive sclerosing poliodystrophy [SNOMED Notion]

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