Beemer lethal malformation syndrome

Preferred Label : Beemer lethal malformation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hydrocephalus, cardiac malformation, dense bones, genital anomalies, thrombocytopenia, and dysmorphic facies;

Inheritance : Autosomal recessive;

Prefixed ID : 209970;

Details

Origin ID

209970;

UMLS CUI

C1859526;

CISMeF manual mappings
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Beemer Ertbruggen syndrome [MeSH concept]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- beemer ertbruggen syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the skeletal system [HPO term]
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydrocephalus [HPO term]
- Thrombocytopenia [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Beemer-Ertbruggen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beemer Ertbruggen syndrome [MeSH concept]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) [SNOMED CT concept]
- beemer ertbruggen syndrome [MeSH Supplementary Concept]

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