Laurence-Moon Syndrome

Preferred Label : Laurence-Moon Syndrome;

NCIt definition : A rare genetic syndrome with an autosomal recessive pattern of inheritance. Mutations in the BBS5 and MKKS genes of chromosome 11 have been observed in some cases which has lead to comparisons with Bardet-Biedl syndrome and McKusick-Kaufman syndrome. These syndromes have similar etiologies and presentations but are considered separate entities. Clinical signs of Laurence-Moon syndrome include ataxia, intellectual delay, retinitis pigmentosa and hypogonadism. The clinical course follows a progression to growth retardation, spastic paraplegia and optic atrophy with eventual vision loss.;

Details

Origin ID

C34760;

UMLS CUI

C0023138;

Currated CISMeF NLP mapping
- Laurence Moon syndrome [Disease (Nov.)]
- Laurence-Moon syndrome [DO Concept]
- Laurence-Moon syndrome [ICD-11 More detail]
- Laurence-Moon syndrome [MeSH concept]
- Laurence-Moon syndrome [ORDO Disease]
- Laurence-Moon syndrome [MedDRA LLT]
- Laurence-Moon syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- Laurence-moon syndrome [OMIM Phenotype]
- laurence-moon syndrome [MeSH Descriptor]
DO Cross reference
- Laurence-Moon syndrome [DO Concept]
See also inter- (CISMeF)
- Bardet-Biedl syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laurence-Moon syndrome [ORDO Disease]
- Laurence-Moon syndrome [MedDRA LLT]
- Laurence-Moon syndrome [DO Concept]
- Laurence-Moon syndrome [MeSH concept]
- Laurence-Moon syndrome (disorder) [SNOMED CT concept]
- Laurence-moon syndrome [OMIM Phenotype]
- laurence-moon syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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