hypertelorism with esophageal abnormality and hypospadias

Preferred Label : hypertelorism with esophageal abnormality and hypospadias;

MeSH synonym : hypospadias-dysphagia, syndrome; opitz BBBG syndrome; Opitz-G syndrome, type 2; telecanthus with associated abnormalities; hypertelorism hypospadias syndrome; Opitz-Frias syndrome; chromosome 22q11.2 deletion syndrome, opitz phenotype; Hypospadias-Dysphagia syndrome; opitz GBBB syndrome, type II; opitz oculogenitolaryngeal syndrome, type II; Opitz-G syndrome, type II; opitz GBBB syndrome, autosomal dominant; hypertelorism with esophageal abnormalities and hypospadias; Hypertelorism-Hypospadias sydrome; opitz BBB syndrome; opitz G syndrome; opitz G-BBB syndrome; opitz BBB-G syndrome; autosomal dominant opitz syndrome (ADOS); Teebi syndrome; Brachycephalofrontonasal dysplasia; Hypertelorism, Teebi type; Teebi hypertelorism syndrome;

Details

Origin ID

C538387;

UMLS CUI

C0796179;

Automatic exact mappings (from CISMeF team)
- Opitz GBBB syndrome type II [DO Concept]
- Opitz gbbb syndrome [OMIM phenotypic series]
- SPECC1L-related hypertelorism syndrome [ORDO Disease]
- midline 1 [ORDO Gene]
- midline 1 [HGNC gene]
CISMeF manual mappings
- Opitz GBBB syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Opitz BBB/G syndrome [ICD-11 More detail]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz gbbb syndrome [OMIM Phenotype]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Opitz-GBBB syndrome [DO Concept]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
- opitz-frias syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- esophagus [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- hypospadias [MeSH Descriptor]
Record concept(s)
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism Teebi type (disorder) [SNOMED CT concept]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz gbbb syndrome, type II [OMIM Phenotype]
- Opitz-G/BBB syndrome [MedDRA Preferred Term]
- Teebi hypertelorism syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Opitz syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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