opitz GBBB syndrome, X-Linked

Preferred Label : opitz GBBB syndrome, X-Linked;

MeSH synonym : opitz GBBB syndrome, type I; opitz syndrome, X-Linked; Opitz-G syndrome, type I; opitz BBBG syndrome, type I; opitz syndrome; X-Linked opitz syndrome (XLOS);

Details

Origin ID

C567932;

UMLS CUI

C2936904;

Automatic exact mappings (from CISMeF team)
- Opitz GBBB syndrome type I [DO Concept]
Currated CISMeF NLP mapping
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz GBBB syndrome [ORDO Disease]
- Opitz gbbb syndrome [OMIM Phenotype]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cleft palate [MeSH Descriptor]
- esophagus [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
Record concept(s)
- opitz GBBB syndrome, X-Linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Opitz gbbb syndrome [OMIM Phenotype]
- Opitz syndrome [Disease (Nov.)]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
- opitz-frias syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Opitz syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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