Opitz BBB/G syndrome

Preferred Label : Opitz BBB/G syndrome;

ICD-11 definition : Opitz syndrome is a genetic disorder characterised by the association of craniofacial anomalies (including hypertelorism with telecanthus, a wide nasal bridge, and sometimes cleft palate/ lip) genito-urineal abnormalities (with hypospadias in affected males) malformations of larynx, pharynx and/or trachea (causing difficulties to swallow and breathe) and, less frequently, other anomalies of the ventral midline. Intelligence may be normal but mild intellectual deficit may occur;

Details

Origin ID

1223495505;

Currated CISMeF NLP mapping
- Autosomal dominant Opitz G/BBB syndrome [ORDO Disease]
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz G/BBB Syndrome [NCIt concept]
- Opitz GBBB syndrome [ORDO Disease]
- 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]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
- opitz-frias syndrome [SNOMED Notion]

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