laurence-moon syndrome

Preferred Label : laurence-moon syndrome;

MeSH definition : An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9);

MeSH synonym : syndrome, laurence-moon-biedl; laurence-moon-biedl syndrome; syndrome, laurence-moon; laurence moon biedl syndrome; laurence moon syndrome;

CISMeF synonym : Laurence-Moon; Laurence Moon; Laurence-Moon-Biedl; Laurence Moon Biedl; laurence-moon's syndrome;

MeSH annotation : note X ref: do not confuse with LAURENCE-MOON-BARDET-BIEDL SYNDROME see BARDET-BIEDL SYNDROME; note entry term: do not confuse with LAURENCE-MOON-BARDET-BIEDL SYNDROME see BARDET-BIEDL SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Laurence-moon syndrome;

Details

Origin ID

D007849;

UMLS CUI

C0023138;

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]
Currated CISMeF NLP mapping
- Bardet-Biedl syndrome (disorder) [SNOMED CT concept]
- Laurence Moon syndrome [Disease (Nov.)]
- Laurence-Moon Syndrome [NCIt concept]
- Laurence-Moon syndrome [DO Concept]
- Laurence-Moon syndrome [ICD-11 More detail]
- 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]
DO Cross reference
- Laurence-Moon syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Congenital hypogonadotropic hypogonadism [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Retinal ciliopathy due to mutation in Bardet-Biedl gene [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Ne pas confondre avec
- bardet-biedl syndrome [MeSH Descriptor]
ORDO relation(s)
- Laurence-Moon syndrome [ORDO Disease]
Record concept(s)
- Laurence-Moon syndrome [MeSH concept]
See also
- intellectual disability [MeSH Descriptor]
See also inter- (CISMeF)
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laurence-Moon Syndrome [NCIt concept]
- Laurence-Moon syndrome [ORDO Disease]
- Laurence-Moon syndrome [MedDRA LLT]
- Laurence-Moon syndrome [DO Concept]
- Laurence-Moon syndrome (disorder) [SNOMED CT concept]
- Laurence-moon syndrome [OMIM Phenotype]

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