proteus syndrome

Preferred Label : proteus syndrome;

MeSH definition : Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called elephant man, apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.;

MeSH synonym : elephant man disease;

CISMeF synonym : Protée; proteus's syndrome;

Related MeSH term : Proteus-Like syndrome; Proteus Like Syndrome; Syndrome, Proteus-Like;

MeSH annotation : hamartomas & multiple abnorm; Proteus refers to the sea god in Greek mythol who could assume many forms; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Proteus syndrome;

Details

Origin ID

D016715;

UMLS CUI

C0085261;

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)
- Cowden syndrome 1 [OMIM Phenotype]
- Proteus like syndrome (disorder) [SNOMED CT concept]
- Proteus-like syndrome [ORDO Disease]
CISMeF manual mappings
- proteus syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Proteus Syndrome [NCIt concept]
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [DO Concept]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome [OMIM Phenotype]
- Proteus syndrome [ORDO Disease]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [Disease (Nov.)]
DO Cross reference
- Proteus syndrome [DO Concept]
Has phenotype(s) (HPO)
- Isolated cases [HPO term]
- Spinal stenosis [HPO term]
Manual NTBT mappings (CISMeF)
- Bulbar conjunctival dermoid or conjunctival dermolipoma [ORDO Disease]
- Complex vascular malformation with associated anomalies [ORDO Disease]
- Genetic skin tumor or hamartoma [ORDO Disease]
- Genetic vascular anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Neurocutaneous syndrome with epilepsy [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Palpebral nevus [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
ORDO relation(s)
- Proteus syndrome [ORDO Disease]
Record concept(s)
- Proteus-Like syndrome [MeSH concept]
- proteus syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- macrocephaly mesodermal hamartoma spectrum [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Proteus-Like Syndrome [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Proteus Syndrome [NCIt concept]
- Proteus syndrome [OMIM Phenotype]
- Proteus syndrome [ORDO Disease]
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome [DO Concept]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [SNOMED Notion]
- proteus syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients