nathalie syndrome

Preferred Label : nathalie syndrome;

MeSH note : Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics;

Details

Origin ID

C538342;

UMLS CUI

C1850626;

Currated CISMeF NLP mapping
- Deafness with cataract and skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Nathalie syndrome [OMIM Phenotype]
- Nathalie syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Deafness [HPO term]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- deafness [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- muscular atrophy [MeSH Descriptor]
- osteochondritis [MeSH Descriptor]
ORDO relation(s)
- Nathalie syndrome [ORDO Disease]
Record concept(s)
- Nathalie syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness with cataract and skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Nathalie syndrome [ORDO Disease]
- Nathalie syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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