Summitt syndrome

Preferred Label : Summitt syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? variant of Carpenter syndrome;

Prefixed ID : 272350;

Details

Origin ID

272350;

UMLS CUI

C1802405;

Currated CISMeF NLP mapping
- Acrocephalopolysyndactyly type II (disorder) [SNOMED CT concept]
- Summitt syndrome [MeSH concept]
- Summitt syndrome [ORDO Disease]
- Summitt syndrome (disorder) [SNOMED CT concept]
- summitt syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Craniosynostosis [HPO term]
- Obesity [HPO term]
- Oxycephaly [HPO term]
- Syndactyly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Summitt syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Summitt syndrome [ORDO Disease]
- Summitt syndrome [MeSH concept]
- Summitt syndrome (disorder) [SNOMED CT concept]
- summitt syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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