septo-optic dysplasia

Preferred Label : septo-optic dysplasia;

MeSH definition : A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.; A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPOTHALAMUS and other diencephalic structures, and HYPOPITUITARISM.;

MeSH synonym : de morsier syndrome; Septo-Optic dysplasia with growth hormone deficiency; septooptic dysplasia; dysplasia, septooptic; septooptic dysplasias; septo optic dysplasia with growth hormone deficiency;

CISMeF synonym : morsier syndrome, de; dysplasias, septooptic; syndrome, de morsier;

Wikipedia link : https://en.wikipedia.org/wiki/Septo-optic dysplasia;

Details

Origin ID

D025962;

UMLS CUI

C0338503;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Septo-optic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Septo-Optic Dysplasia [NCIt concept]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [HRDO Sign]
- 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 sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]
DO Cross reference
- septooptic dysplasia [DO Concept]
HPO term
- Septo-optic dysplasia [HPO term]
Has phenotype(s) (HPO)
- Hypoplastic optic discs with double margin [HPO term]
Manual BTNT mappings - CISMeF
- Corpus callosum dysgenesis-hypopituitarism syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal recessive syndromic optic atrophy [ORDO Disease]
- Disease associated with non-acquired combined pituitary hormone deficiency [ORDO Disease]
- Nervous system anomaly with eye involvement [ORDO Disease]
- Non-syndromic central nervous system malformation [ORDO Disease]
- Rare eye disease due to a differentiation anomaly [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
Mapping VCM hiérarchique
- deformity [VCM modifier]
ORDO relation(s)
- Septo-optic dysplasia spectrum [ORDO Disease]
Record concept(s)
- Septo-Optic dysplasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- absence of septum pellucidum [MeSH Supplementary Concept]
- growth hormone deficiency with pituitary anomalies [MeSH Supplementary Concept]
- hypopituitarism and septooptic 'dysplasia' [MeSH Supplementary Concept]
- optic nerve hypoplasia, familial bilateral [MeSH Supplementary Concept]
- pagon stephan syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Septo-Optic Dysplasia [NCIt concept]
- Septo-optic dysplasia [HRDO Sign]
- Septo-optic dysplasia [HPO term]
- Septo-optic dysplasia [MedDRA Preferred Term]
- Septo-optic dysplasia [ICD-10 Sub-category (who)]
- 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 sequence [SNOMED Notion]
- septooptic dysplasia [DO Concept]

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