donohue syndrome

Preferred Label : donohue syndrome;

MeSH definition : Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.;

MeSH synonym : Syndrome, Donohue; Leprechaunism; Leprechaunisms;

CISMeF synonym : Donohue; donohue's syndrome;

Related MeSH term : Rabson-Mendenhall syndrome; Rabson Mendenhall Syndrome; Syndrome, Rabson-Mendenhall; Mendenhall Syndrome; Syndrome, Mendenhall; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;

Wikipedia link : https://en.wikipedia.org/wiki/Donohue;

Details

Origin ID

D056731;

UMLS CUI

C0265344;

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)
- Donohue syndrome [MedDRA Preferred Term]
- Leprechaunism [ICD-11 More detail]
- Leprechaunism [MedDRA LLT]
- Other specified endocrine disorders [ICD-10 Sub-category (who)]
- Pineal hyperplasia AND diabetes mellitus syndrome (disorder) [SNOMED CT concept]
- Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities [OMIM Phenotype]
- Rabson-Mendenhall syndrome [ICD-11 More detail]
- Rabson-Mendenhall syndrome [ORDO Disease]
- pineal hyperplasia and diabetes mellitus syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Donohue Syndrome [NCIt concept]
- Donohue syndrome [DO Concept]
- Donohue syndrome [OMIM Phenotype]
- Leprechaunism [PASCAL descriptor]
- Leprechaunism [ORDO Disease]
- Leprechaunism syndrome (disorder) [SNOMED CT concept]
- donohue syndrome [Disease (Nov.)]
- leprechaunism syndrome [SNOMED Notion]
DO Cross reference
- Donohue syndrome [DO Concept]
Has phenotype(s) (HPO)
- Full lips [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent eyes [HPO term]
- patches [HPO term]
Manual NTBT mappings (CISMeF)
- Progeroid syndrome [ORDO Disease]
ORDO relation(s)
- Rabson-Mendenhall syndrome [ORDO Disease]
Record concept(s)
- Rabson-Mendenhall syndrome [MeSH concept]
- donohue syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- insulin receptor, defect in [MeSH Supplementary Concept]
See also
- insulin resistance [MeSH Descriptor]
- receptor, insulin [MeSH Descriptor]
See also inter- (CISMeF)
- Rabson-Mendenhall Syndrome [NCIt concept]
- Rabson-Mendenhall syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Donohue Syndrome [NCIt concept]
- Donohue syndrome [OMIM Phenotype]
- Donohue syndrome [DO Concept]
- Donohue syndrome [MedDRA Preferred Term]
- Leprechaunism [ORDO Disease]
- Leprechaunism [PASCAL descriptor]
- Leprechaunism [MedDRA LLT]
- Leprechaunism syndrome (disorder) [SNOMED CT concept]
- donohue syndrome [Disease (Nov.)]
- leprechaunism syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients