Weill-Marchesani syndrome

Preferred Label : Weill-Marchesani syndrome;

MeSH definition : Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.;

MeSH synonym : Dysmorphodystrophies, Congenital Mesodermal; Dysmorphodystrophy, Congenital Mesodermal; Mesodermal Dysmorphodystrophies, Congenital; Marchesani-Weill Syndrome; Marchesani Weill Syndrome; Marchesani-Weill Syndromes; Spherophakia Brachymorphia Syndrome; Spherophakia Brachymorphia Syndromes; Syndrome, Spherophakia Brachymorphia; Syndromes, Spherophakia Brachymorphia; Mesodermal Dysmorphodystrophy, Congenital; Congenital Mesodermal Dysmorphodystrophies; Congenital Mesodermal Dysmorphodystrophy; weill marchesani syndrome; marchesani syndrome; Spherophakia-Brachymorphia syndrome;

CISMeF synonym : Weill-Marchesani; Weill-Marchesani, syndrome de; Weill-Marchesani's syndrome; Brachymorphia Syndrome, Spherophakia; Syndrome, Marchesani-Weill; Syndrome, Weill-Marchesani; Syndromes, Marchesani-Weill;

MeSH hyponym : Weill-Marchesani syndrome, autosomal recessive; Weill-Marchesani syndrome, autosomal dominant; Weill Marchesani Syndrome, Autosomal Recessive; Weill Marchesani Syndrome, Autosomal Dominant; Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; GEMSS;

Details

Origin ID

D056846;

UMLS CUI

C0265313;

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]
CISMeF manual mappings
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani Syndrome [NCIt concept]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome [ACR pathology]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- Weill-marchesani syndrome [OMIM phenotypic series]
- weill-marchesani syndrome [SNOMED Notion]
DO Cross reference
- Weill-Marchesani syndrome [DO Concept]
Has phenotype(s) (HPO)
- Adult female height 130-157 cm [HPO term]
- Adult male height 142-169 cm [HPO term]
- Flattened nasal bridge [HPO term]
- Short stature, proportionate [HPO term]
- Small shallow orbits [HPO term]
- Usually autosomal dominant [HPO term]
Manual NTBT mappings (CISMeF)
- Acromelic dysplasia [ORDO Disease]
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Lens size anomaly [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
ORDO relation(s)
- Weill-Marchesani syndrome [ORDO Disease]
Record concept(s)
- Weill-Marchesani syndrome [MeSH concept]
- Weill-Marchesani syndrome, autosomal dominant [MeSH concept]
- Weill-Marchesani syndrome, autosomal recessive [MeSH concept]
See also
- marfan syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marchesani syndrome (disorder) [Inactive SNOMED CT concept]
- Microspherophakia or Weill Marchesani Syndrome [ICD-11 More detail]
- Weill Marchesani syndrome [Disease (Nov.)]
- Weill-Marchesani Syndrome [NCIt concept]
- Weill-Marchesani syndrome [ORDO Disease]
- Weill-Marchesani syndrome [DO Concept]
- Weill-Marchesani syndrome [PASCAL descriptor]
- Weill-Marchesani syndrome [MedDRA Preferred Term]
- Weill-Marchesani syndrome (disorder) [SNOMED CT concept]
- weill-marchesani syndrome [SNOMED Notion]

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