Klippel-Trenaunay-Weber syndrome

Preferred Label : Klippel-Trenaunay-Weber syndrome;

MeSH definition : A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.;

MeSH synonym : klippel trenaunay disease; syndrome, klippel-trenaunay-weber; klippel-trenaunay disease; disease, klippel-trenaunay; angioosteohypertrophy syndrome; angioosteohypertrophy syndromes; syndrome, angioosteohypertrophy; syndromes, angioosteohypertrophy; klippel trenaunay syndrome; syndrome, klippel trenaunay; klippel trenaunay weber syndrome; Klippel-Trenaunay syndrome; Klippel-Trenaunay syndromes; syndrome, Klippel-Trenaunay; syndromes, Klippel-Trenaunay; Klippel-Trénaunay-Weber syndrome; KTW syndrome; KTW syndromes; syndrome, KTW; syndromes, KTW; Angio-Osteohypertrophy syndrome; angio osteohypertrophy syndrome; Angio-Osteohypertrophy syndromes; syndrome, Angio-Osteohypertrophy; syndromes, Angio-Osteohypertrophy; congenital dysplastic angiopathy; angiopathies, congenital dysplastic; angiopathy, congenital dysplastic; congenital dysplastic angiopathies; dysplastic angiopathies, congenital; dysplastic angiopathy, congenital; Klippel Trénaunay Weber Syndrome; Syndrome, Klippel-Trénaunay-Weber;

CISMeF synonym : Klippel Trénaunay; Klippel-Trenaunay-Weber; Klippel Trenaunay Weber; Klippel-Trenaunay-Weber's syndrome;

DeCS synonym : Klippel Tr naunay Weber Syndrome; Klippel-Tr naunay-Weber Syndrome;

Details

Origin ID

D007715;

UMLS CUI

C0022739;

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)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- Osteodystrophic vascular dysplasia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Angio-osteohypertrophic syndrome [ICD-11 Sub-sub category]
- Angio-osteohypertrophic syndrome (disorder) [SNOMED CT concept]
- Angioosteohypertrophic syndrome [ORDO Disease]
- Klippel Trenaunay Weber syndrome [Disease (Nov.)]
- Klippel Trenaunay angiodysplasia (syndrome) [PASCAL descriptor]
- Klippel Trenaunay syndrome (disorder) [SNOMED CT concept]
- Klippel-Trenaunay syndrome [DO Concept]
- Klippel-Trenaunay syndrome [MedDRA Preferred Term]
- Klippel-Trenaunay-Weber Syndrome [NCIt concept]
- Klippel-Trenaunay-Weber syndrome [MedDRA LLT]
- Klippel-Trenaunay-Weber syndrome (disorder) [Inactive SNOMED CT concept]
- Klippel-Trénaunay syndrome [ICD-11 More detail]
- Klippel-Trénaunay syndrome [ORDO Disease]
- Klippel-trenaunay-weber syndrome [OMIM Phenotype]
- Parkes weber syndrome [OMIM Phenotype]
- klippel-trenaunay-weber syndrome [SNOMED Notion]
DO Cross reference
- Klippel-Trenaunay syndrome [DO Concept]
Has phenotype(s) (HPO)
- Asymmetric limb hypertrophy [HPO term]
Manual BTNT mappings - CISMeF
- Parkes Weber syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Complex vascular malformation with associated anomalies [ORDO Disease]
- Conjunctival hemangioma or hemolymphangioma [ORDO Disease]
- Genetic skin vascular disorder [ORDO Disease]
- Genetic vascular anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Palpebral tumor with a vascular malformation [ORDO Disease]
- Skin vascular disease [ORDO Disease]
ORDO relation(s)
- Angioosteohypertrophic syndrome [ORDO Disease]
Record concept(s)
- Klippel-Trenaunay-Weber syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- weber klippel trenaunay [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Angio-osteohypertrophic syndrome (disorder) [SNOMED CT concept]
- Klippel Trenaunay Weber syndrome [Disease (Nov.)]
- Klippel Trenaunay syndrome (disorder) [SNOMED CT concept]
- Klippel-Trenaunay syndrome [MedDRA Preferred Term]
- Klippel-Trenaunay syndrome [DO Concept]
- Klippel-Trenaunay-Weber Syndrome [NCIt concept]
- Klippel-Trenaunay-Weber syndrome [MedDRA LLT]
- Klippel-Trenaunay-Weber syndrome (disorder) [Inactive SNOMED CT concept]
- Klippel-Trénaunay syndrome [ORDO Disease]
- Klippel-trenaunay-weber syndrome [OMIM Phenotype]
- klippel-trenaunay-weber syndrome [SNOMED Notion]

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