seemanova lesny syndrome

Preferred Label : seemanova lesny syndrome;

MeSH note : X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity;

MeSH synonym : Microcephaly microcornea syndrome Seemanova type;

Détails

Origin ID

C537536;

UMLS CUI

C2931524;

Currated CISMeF NLP mapping
- Microcephalus microcornea syndrome of Seemanova type (disorder) [SNOMED CT concept]
- Microcephaly-microcornea syndrome, Seemanova type [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cataract [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- muscle spasticity [MeSH Descriptor]
ORDO relation(s)
- Microcephaly-microcornea syndrome, Seemanova type [ORDO Disease]
Record concept(s)
- Seemanova Lesny syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalus microcornea syndrome of Seemanova type (disorder) [SNOMED CT concept]
- Microcephaly-microcornea syndrome, Seemanova type [ORDO Disease]

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

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