Marshall-Smith syndrome

Preferred Label : Marshall-Smith syndrome;

Origin ID

C536026;

UMLS CUI

C0265211;

Currated CISMeF NLP mapping
- Marshall syndrome [Disease (Nov.)]
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome [ICD-11 More detail]
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- Marshall-smith syndrome [OMIM Phenotype]
- marshall-smith syndrome [SNOMED Notion]
DO Cross reference
- Marshall-Smith syndrome [DO Concept]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Early death [HPO term]
- Flattened nasal bridge [HPO term]
- Increased linear growth [HPO term]
- Isolated cases [HPO term]
- Prominent eyes [HPO term]
- Spinal stenosis [HPO term]
- Upturned nose [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- septo-optic dysplasia [MeSH Descriptor]
ORDO relation(s)
- Marshall-Smith syndrome [ORDO Disease]
Record concept(s)
- Marshall-Smith syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marshall-Smith syndrome [ORDO Disease]
- Marshall-Smith syndrome [DO Concept]
- Marshall-Smith syndrome [ICD-11 More detail]
- Marshall-Smith syndrome (disorder) [SNOMED CT concept]
- Marshall-smith syndrome [OMIM Phenotype]
- marshall-smith syndrome [SNOMED Notion]