Trisomy 18-like syndrome

Preferred Label : Trisomy 18-like syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601161;

Details

Origin ID

601161;

UMLS CUI

C1832677;

Currated CISMeF NLP mapping
- trisomy 18-Like syndrome [MeSH concept]
- trisomy 18-Like syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad nasal root [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow palpebral fissure [HPO term]
- Preauricular skin tag [HPO term]
- Telecanthus [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- trisomy 18-Like syndrome [MeSH Supplementary Concept]
- trisomy 18-Like syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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