Microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs

Preferred Label : Microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601355;

Details

Origin ID

601355;

UMLS CUI

C1832436;

Automatic exact mappings (from CISMeF team)
- Ellis Yale Winter syndrome [MeSH concept]
- Microcephaly-cardiac defect-lung malsegmentation syndrome [ORDO Disease]
- ellis yale winter syndrome [MeSH Supplementary Concept]
- microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [MeSH Supplementary Concept]
- microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [MeSH concept]
HPO term(s)
- Abnormality of the respiratory system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Hydranencephaly [HPO term]
- Microcephaly [HPO term]
- Preauricular pit [HPO term]
- Short distal phalanx of finger [HPO term]
- Truncus arteriosus [HPO term]
- Underdeveloped nasal alae [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Microcephaly-cardiac defect-lung malsegmentation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [MeSH Supplementary Concept]
- microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs [MeSH concept]

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