Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate

Preferred Label : Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate;

CISMeF synonym : holoprosencephaly, ectrodactyly, and bilateral cleft Lip/Palate;

MeSH synonym : hartsfield syndrome;

Details

Origin ID

C564484;

UMLS CUI

C1845146;

Currated CISMeF NLP mapping
- Hartsfield syndrome [OMIM Phenotype]
- Hartsfield syndrome [ORDO Disease]
- Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate [OMIM Phenotype]
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- fingers [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- holoprosencephaly [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hartsfield syndrome [OMIM Phenotype]
- Hartsfield syndrome [ORDO Disease]
- Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate [OMIM Phenotype]
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) [SNOMED CT concept]

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