gyrate atrophy of the choroid and retina - CISMeF

" /> gyrate atrophy of the choroid and retina - CISMeF

CISMeF

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Gyrate atrophy of the choroid and retinaSNOMED Notion

Preferred Label : gyrate atrophy of the choroid and retina;

Details

Origin ID

D6-A5110;

UMLS CUI

C0018425;

Currated CISMeF NLP mapping
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- Gyrate atrophy of choroid and retina [ORDO Disease]
- Ornithine aminotransferase deficiency [MeSH concept]
- Ornithine oxo-acid aminotransferase deficiency (disorder) [SNOMED CT concept]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy [DO Concept]
- ornithine aminotransferase deficiency [Disease (Nov.)]
ICD-10 exact mapping(s)
- Disorders of ornithine metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of ornithine or proline metabolism [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Unclassified familial retinal dystrophy [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- ornithine-oxo-acid aminotransferase [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gyrate Atrophy [NCIt concept]
- Gyrate atrophy (disorder) [SNOMED CT concept]
- Gyrate atrophy of choroid and retina [OMIM Phenotype]
- Gyrate atrophy of the choroid and retina [MedDRA LLT]
- gyrate atrophy [MeSH Descriptor]
- gyrate atrophy [MeSH concept]
- gyrate atrophy [Disease (Nov.)]
- gyrate atrophy [DO Concept]

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01/05/2025

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