Marshall-Smith syndrome

Preferred Label : Marshall-Smith syndrome;

ICD-11 definition : Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth associated with dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia.;

Details

Origin ID

417951600;

UMLS CUI

C0265211;

Currated CISMeF NLP mapping
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome [MeSH concept]
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- Marshall-smith syndrome [OMIM Phenotype]
- marshall-smith syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome [MeSH concept]
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- Marshall-smith syndrome [OMIM Phenotype]
- marshall-smith syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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