Preferred Label : Hyperornithinaemia;
ICD-11 definition : Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial
ornithine aminotransferase deficiency.The main clinical manifestation of the disease
is gyrate atrophy of the choroid and retina that begins during childhood with myopia
and night blindness, followed by concentric shrinking of the visual field (tunnel
vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram
soon goes flat. Patients often develop subcapsular posterior cataract between the
ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients
have normal intelligence.;
ICD-11 synonym : Ornithine oxo-acid aminotransferase deficiency; Ornithine keto-acid transaminase deficiency; HOGA - [hyperornithinaemia - gyrate atrophy of choroid and retina]; Ornithine aminotransferase deficiency; hyperornithinaemia - gyrate atrophy of choroid and retina; Generalised gyrate choroid atrophy; Ornithinaemia;
ICD-11 acronym : HOGA;
ICD-11 inclusion : ornithinaemia Type 1; ornithinaemia Type 2; OAT - [ornithine oxo-acid aminotransferase] deficiency; ornithine-oxo-acid amino acid transferase deficiency;
Origin ID : 1167147004;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial
ornithine aminotransferase deficiency.The main clinical manifestation of the disease
is gyrate atrophy of the choroid and retina that begins during childhood with myopia
and night blindness, followed by concentric shrinking of the visual field (tunnel
vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram
soon goes flat. Patients often develop subcapsular posterior cataract between the
ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients
have normal intelligence.
