Septo-Optic Dysplasia

Preferred Label : Septo-Optic Dysplasia;

NCIt synonyms : De Morsier Syndrome;

NCIt related terms : Septo-Optic Dysplasia Sequence;

NCIt definition : A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.;

Alternative definition : NICHD: A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances.;

Details

Origin ID

C85063;

UMLS CUI

C0338503;

Automatic exact mappings (from CISMeF team)
- Septo-optic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Septo-Optic dysplasia [MeSH concept]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia of brain [ICD-10 Sub-category]
- Septo-optic dysplasia sequence (disorder) [SNOMED CT concept]
- Septo-optic dysplasia spectrum [ORDO Disease]
- Septooptic dysplasia [PASCAL descriptor]
- Septooptic dysplasia [OMIM Phenotype]
- de Morsier's syndrome [MedDRA LLT]
- septo-optic dysplasia [Disease (Nov.)]
- septo-optic dysplasia [MeSH Descriptor]
- septo-optic dysplasia sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]
DO Cross reference
- septooptic dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Septo-Optic dysplasia [MeSH concept]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia sequence (disorder) [SNOMED CT concept]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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