costello syndrome

Preferred Label : costello syndrome;

MeSH definition : Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).;

MeSH synonym : Syndrome, Costello; Faciocutaneoskeletal Syndrome; Faciocutaneoskeletal Syndromes; Syndrome, Faciocutaneoskeletal; Syndromes, Faciocutaneoskeletal; FCS syndrome; FCS syndromes; syndrome, FCS; syndromes, FCS;

CISMeF synonym : Costello; Costello's syndrome;

Details

Origin ID

D056685;

UMLS CUI

C0587248;

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)
- Costello syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Costello Syndrome [NCIt concept]
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [DO Concept]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome [OMIM Phenotype]
- Costello syndrome [ORDO Disease]
- Costello syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Costello syndrome [DO Concept]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- High-arched palate [HPO term]
- Isolated cases [HPO term]
Manual NTBT mappings (CISMeF)
- Dermis elastic tissue disorder [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
ORDO relation(s)
- Costello syndrome [ORDO Disease]
Record concept(s)
- costello syndrome [MeSH concept]
See also
- Proto-Oncogene proteins p21(ras) [MeSH Descriptor]
- genes, ras [MeSH Descriptor]
- noonan syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Costello Syndrome [NCIt concept]
- Costello syndrome [OMIM Phenotype]
- Costello syndrome [ORDO Disease]
- Costello syndrome [DO Concept]
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome (disorder) [SNOMED CT concept]

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