cohen syndrome

Preferred Label : cohen syndrome;

MeSH note : Hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies;

CISMeF synonym : hypotonia, obesity and prominent incisors;

MeSH synonym : pepper syndrome; hypotonia, obesity, and prominent incisors; Obesity-Hypotonia syndrome; prominent Incisors-Obesity-Hypotonia syndrome; norio syndrome;

MeSH hyponym : Retinopathy, Pigmentary, And Mental Retardation; Retinopathy pigmentary mental retardation;

Details

Origin ID

C536438;

UMLS CUI

C0265223;

Automatic exact mappings (from CISMeF team)
- Cohen syndrome [DO Concept]
- Stage 4S Neuroblastoma [NCIt concept]
Currated CISMeF NLP mapping
- Cohen syndrome [PASCAL descriptor]
- Cohen syndrome [Disease (Nov.)]
- Cohen syndrome [ICD-11 More detail]
- Cohen syndrome [MedDRA Preferred Term]
- Cohen syndrome [OMIM Phenotype]
- Cohen syndrome [ORDO Disease]
- Cohen syndrome (disorder) [SNOMED CT concept]
- cohen syndrome [SNOMED Notion]
DO Cross reference
- Cohen syndrome [DO Concept]
MeSH term(s) associated for indexing
- developmental disabilities [MeSH Descriptor]
- fingers [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- myopia [MeSH Descriptor]
- obesity [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
ORDO relation(s)
- Cohen syndrome [ORDO Disease]
Record concept(s)
- Cohen syndrome [MeSH concept]
- Mirhosseini-Holmes-Walton syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cohen syndrome [ORDO Disease]
- Cohen syndrome [MedDRA Preferred Term]
- Cohen syndrome [OMIM Phenotype]
- Cohen syndrome [PASCAL descriptor]
- Cohen syndrome [Disease (Nov.)]
- Cohen syndrome [ICD-11 More detail]
- Cohen syndrome [DO Concept]
- Cohen syndrome (disorder) [SNOMED CT concept]
- cohen syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients