Septo-optic dysplasia

Preferred Label : Septo-optic dysplasia;

ICD-11 definition : Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary gland dysfunction and midline brain defects.;

ICD-11 synonym : De Morsier syndrome; Septooptic dysplasia spectrum; SOD - [Septo-optic dysplasia]; septo-optic dysplasia sequence;

ICD-11 acronym : SOD;

Détails

Origin ID

1890642169;

Automatic exact mappings (from CISMeF team)
- Occurs with Overdose Indicator [NCIt concept]
- SOD1 wt Allele [NCIt concept]
- Septo-Optic Dysplasia [NCIt concept]
- Septo-Optic dysplasia [MeSH concept]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia sequence (disorder) [SNOMED CT concept]
- Septo-optic dysplasia spectrum [ORDO Disease]
- Septooptic dysplasia [OMIM Phenotype]
- Septooptic dysplasia [PASCAL descriptor]
- de Morsier's syndrome [MedDRA LLT]
- septo-optic dysplasia [MeSH Descriptor]
- septo-optic dysplasia sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]
- superoxide dismutase [SNOMED Notion]
- superoxide dismutase activity [GO term]

Position du mot-clé dans l'(les) arborescence(s) :

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