waardenburg syndrome

Preferred Label : waardenburg syndrome;

MeSH definition : Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.;

MeSH synonym : syndrome, waardenburg's; waardenburgs syndrome; syndrome, waardenburg; waardenburg's syndrome;

CISMeF synonym : Waardenburg; waardenburg's's syndrome;

MeSH hyponym : waardenburg syndrome type 1; Waardenburg Syndrome, Type 1; Waardenburg Syndrome with Dystopia Canthorum; Waardenburg's Syndrome Type 1;

Related MeSH term : klein syndrome; Syndrome, Klein; Klein-Waardenburg Syndrome; Klein Waardenburg Syndrome; Syndrome, Klein-Waardenburg; Waardenburg Syndrome Type 3; White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations; Waardenburg Syndrome, Type 3; Waardenburg Syndrome, Type III; Waardenburg-Klein Syndrome; Syndrome, Waardenburg-Klein; Waardenburg Klein Syndrome; Klein's Syndrome; Kleins Syndrome; Syndrome, Klein's; Waardenburg Syndrome with Upper Limb Anomalies;

Wikipedia link : https://en.wikipedia.org/wiki/Waardenburg syndrome type 3;

Details

Origin ID

D014849;

UMLS CUI

C3266898;

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)
- Avery's syndrome type 1 (disorder) [SNOMED CT concept]
- Duane's syndrome, type 1 (disorder) [SNOMED CT concept]
- Waardenburg Syndrome Type 1 [NCIt concept]
- Waardenburg syndrome [OMIM phenotypic series]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 1 [ICD-11 More detail]
- Waardenburg syndrome type 1 (disorder) [SNOMED CT concept]
- Waardenburg syndrome type 3 [ICD-11 More detail]
- Waardenburg syndrome type 3 [ORDO Disease]
- Waardenburg syndrome type 3 (disorder) [SNOMED CT concept]
- Waardenburg syndrome type 3 (disorder) [Inactive SNOMED CT concept]
- Waardenburg syndrome, type 1 [OMIM Phenotype]
- Waardenburg syndrome, type 2a [OMIM Phenotype]
- Waardenburg syndrome, type 3 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Waardenburg Syndrome [NCIt concept]
- Waardenburg syndrome [Disease (Nov.)]
- Waardenburg syndrome [ICD-11 More detail]
- Waardenburg syndrome [MedDRA Preferred Term]
- Waardenburg syndrome [ORDO Disease]
- Waardenburg syndrome (disorder) [SNOMED CT concept]
- Waardenburg's syndrome [DO Concept]
- waardenburg's syndrome [SNOMED Notion]
DO Cross reference
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg's syndrome [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- waardenburg's syndrome [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Eyebrow hypertrophy [ORDO Disease]
- Eyebrow/eyelashes pigmentation anomaly [ORDO Disease]
- Genetic hypopigmentation of the skin [ORDO Disease]
- Hypopigmentation of the skin [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare disease involving intestinal motility [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic intestinal malformation [ORDO Disease]
ORDO relation(s)
- Waardenburg syndrome [ORDO Disease]
Record concept(s)
- klein syndrome [MeSH concept]
- waardenburg syndrome [MeSH concept]
- waardenburg syndrome type 1 [MeSH concept]
Related MeSH Supplementary Concept(s)
- ABCD syndrome [MeSH Supplementary Concept]
- anophthalmos with limb anomalies [MeSH Supplementary Concept]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH Supplementary Concept]
- van der hoeve halbertsma waardenburg gualdi syndrome [MeSH Supplementary Concept]
- waardenburg syndrome type 2 [MeSH Supplementary Concept]
- waardenburg syndrome type 2A [MeSH Supplementary Concept]
- waardenburg syndrome type 2B [MeSH Supplementary Concept]
- waardenburg syndrome, type 2C [MeSH Supplementary Concept]
- waardenburg syndrome, type 2D [MeSH Supplementary Concept]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
- waardenburg syndrome, type 4b [MeSH Supplementary Concept]
- waardenburg syndrome, type 4c [MeSH Supplementary Concept]
See also
- piebaldism [MeSH Descriptor]
See also (suggested by CISMeF)
- hirschsprung disease [MeSH Descriptor]
See also inter- (CISMeF)
- Waardenburg syndrome type 3 (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg Syndrome [NCIt concept]
- Waardenburg syndrome [MedDRA Preferred Term]
- Waardenburg syndrome [Disease (Nov.)]
- Waardenburg syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Waardenburg Klein syndrome [Disease (Nov.)]
- Waardenburg Syndrome Type 1 [NCIt concept]
- Waardenburg syndrome type 1 [DO Concept]
- Waardenburg syndrome type 1 [ORDO Disease]
- Waardenburg syndrome type 2 [ORDO Disease]
- Waardenburg syndrome type 3 [DO Concept]
- Waardenburg syndrome, type 1 [OMIM Phenotype]

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