bixler christian gorlin syndrome

Preferred Label : bixler christian gorlin syndrome;

MeSH synonym : hypertelorism microtia facial clefting syndrome; hypertelorism, microtia, facial clefting syndrome; HMC syndrome;

Details

Origin ID

C537632;

UMLS CUI

C0220742;

Automatic exact mappings (from CISMeF team)
- hypertelorism, microtia, facial clefting syndrome [DO Concept]
Currated CISMeF NLP mapping
- Hypertelorism with microtia and facial clefting syndrome (disorder) [SNOMED CT concept]
- Hypertelorism, microtia, facial clefting syndrome [OMIM Phenotype]
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
DO Cross reference
- hypertelorism, microtia, facial clefting syndrome [DO Concept]
MeSH term(s) associated for indexing
- Congenital Microtia [MeSH Descriptor]
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- ear deformities, acquired [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- kidney [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- Bixler Christian Gorlin syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertelorism with microtia and facial clefting syndrome (disorder) [SNOMED CT concept]
- Hypertelorism, microtia, facial clefting syndrome [OMIM Phenotype]
- Hypertelorism-microtia-facial clefting syndrome [ORDO Disease]
- hypertelorism, microtia, facial clefting syndrome [DO Concept]

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