LEOPARD syndrome

Preferred Label : LEOPARD syndrome;

ICD-11 definition : LEOPARD syndrome is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness.;

ICD-11 synonym : Noonan with multiple lentigines syndrome;

Details

Origin ID

939197023;

Automatic exact mappings (from CISMeF team)
- Leopard syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- LEOPARD Syndrome [NCIt concept]
- LEOPARD syndrome [PASCAL descriptor]
- LEOPARD syndrome [MeSH concept]
- LEOPARD syndrome [MeSH Descriptor]
- LEOPARD syndrome [MedDRA LLT]
- Leopard syndrome 1 [OMIM Phenotype]
- Multiple lentigines syndrome [MedDRA Preferred Term]
- Multiple lentigines syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- Noonan syndrome with multiple lentigines [DO Concept]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients