abruzzo erickson syndrome

Preferred Label : abruzzo erickson syndrome;

MeSH synonym : CHARGE like syndrome, X linked; Charge-Like syndrome, X-Linked; Abruzzo-Erickson syndrome;

Details

Origin ID

C535559;

UMLS CUI

C1844862;

Automatic exact mappings (from CISMeF team)
- Abruzzo-Erickson syndrome [DO Concept]
Currated CISMeF NLP mapping
- Abruzzo-Erickson syndrome [ORDO Disease]
- Abruzzo-erickson syndrome [OMIM Phenotype]
- Cleft palate with coloboma of eye and deafness syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Abruzzo-Erickson syndrome [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- hearing loss, conductive [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- maxillofacial abnormalities [MeSH Descriptor]
ORDO relation(s)
- Abruzzo-Erickson syndrome [ORDO Disease]
Record concept(s)
- Abruzzo Erickson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abruzzo-Erickson syndrome [ORDO Disease]
- Abruzzo-Erickson syndrome [DO Concept]
- Abruzzo-erickson syndrome [OMIM Phenotype]
- Cleft palate with coloboma of eye and deafness syndrome (disorder) [SNOMED CT concept]

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