Say syndrome - CISMeF

Preferred Label : Say syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cleft palate, microcephaly, large ears, and short stature;

Inheritance : Autosomal dominant;

Prefixed ID : 181180;

Details

Origin ID

181180;

UMLS CUI

C1867023;

Currated CISMeF NLP mapping
- Cleft palate, large ears, small head syndrome (disorder) [SNOMED CT concept]
- Cleft palate-large ears-small head syndrome [ORDO Disease]
- Say syndrome [MeSH concept]
- say syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cystic renal dysplasia [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Short distal phalanx of finger [HPO term]
- Short stature [HPO term]
- Tapered finger [HPO term]
- Ulnar deviation of the 3rd finger [HPO term]
ORDO concept(s)
- Cleft palate-large ears-small head syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft palate, large ears, small head syndrome (disorder) [SNOMED CT concept]
- Cleft palate-large ears-small head syndrome [ORDO Disease]
- Say syndrome [MeSH concept]
- say syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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