LEOPARD syndrome

Preferred Label : LEOPARD syndrome;

MeSH definition : An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.;

MeSH synonym : leopard syndromes; syndrome, leopard; lentigines syndrome, multiple; multiple lentigines syndromes; lentigines syndromes, multiple; syndromes, leopard; multiple lentigines syndrome; syndrome, multiple lentigines; syndromes, multiple lentigines; lentiginosis cardiomyopathic; cardiomyopathic, lentiginosis; cardiomyopathics, lentiginosis; lentiginosis cardiomyopathics; progressive cardiomyopathic lentiginosis; cardiomyopathic lentiginoses, progressive; cardiomyopathic lentiginosis, progressive; lentiginoses, progressive cardiomyopathic; lentiginosis, progressive cardiomyopathic; progressive cardiomyopathic lentiginoses; Cardio-Cutaneous syndrome; cardio cutaneous syndrome; Cardio-Cutaneous syndromes; syndrome, Cardio-Cutaneous; syndromes, Cardio-Cutaneous; noonan syndrome with multiple lentigines; cardiomyopathic lentiginosis; cardiomyopathic lentiginoses; lentiginoses, cardiomyopathic; lentiginosis, cardiomyopathic;

CISMeF synonym : LEOPARD syndrome, 1; LEOPARD syndromes, 1; leopard syndrome 1s; syndromes, 1 LEOPARD;

MeSH hyponym : Leopard Syndrome 1;

Wikipedia link : https://en.wikipedia.org/wiki/Noonan syndrome with multiple lentigines;

Details

Origin ID

D044542;

UMLS CUI

C0175704;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Leopard syndrome [OMIM phenotypic series]
- Moynahan's syndrome (disorder) [SNOMED CT concept]
- Noonan syndrome with multiple lentigines 1 [DO Concept]
Currated CISMeF NLP mapping
- LEOPARD Syndrome [NCIt concept]
- LEOPARD syndrome [PASCAL descriptor]
- LEOPARD syndrome [ICD-11 More detail]
- 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 [DO Concept]
- Noonan syndrome with multiple lentigines [ORDO Disease]
- leopard syndrome [Disease (Nov.)]
- multiple lentigines syndrome [SNOMED Notion]
DO Cross reference
- Noonan syndrome with multiple lentigines [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Noonan syndrome and Noonan-related syndrome [ORDO Disease]
- Palpebral lentiginosis [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
ORDO relation(s)
- Noonan syndrome with multiple lentigines [ORDO Disease]
Record concept(s)
- LEOPARD Syndrome, 1 [MeSH concept]
- LEOPARD syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- LEOPARD syndrome, 2 [MeSH Supplementary Concept]
See also
- neurofibromatosis 1 [MeSH Descriptor]
- noonan syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- progressive cardiomyopathic lentiginosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LEOPARD Syndrome [NCIt concept]
- LEOPARD syndrome [MedDRA LLT]
- LEOPARD syndrome [PASCAL descriptor]
- 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]

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