Townes-Brocks Syndrome

Preferred Label : Townes-Brocks Syndrome;

NCIt related terms : Townes Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.;

Details

Origin ID

C99085;

UMLS CUI

C0265246;

Automatic exact mappings (from CISMeF team)
- Townes-brocks syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Townes syndrome (disorder) [SNOMED CT concept]
- Townes-Brocks syndrome [MeSH concept]
- Townes-Brocks syndrome [MeSH Supplementary Concept]
- Townes-Brocks syndrome [ORDO Disease]
- Townes-Brocks syndrome [DO Concept]
- Townes-Brocks syndrome [ICD-11 More detail]
- Townes-brocks syndrome 1 [OMIM Phenotype]
- townes syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Townes syndrome (disorder) [SNOMED CT concept]
- Townes-Brocks syndrome [MeSH Supplementary Concept]
- Townes-Brocks syndrome [MeSH concept]
- Townes-Brocks syndrome [ORDO Disease]
- Townes-Brocks syndrome [DO Concept]
- Townes-brocks syndrome 1 [OMIM Phenotype]
- townes syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
related_to_genetic_biomarker
- DACT1 Gene [NCIt concept]
- SALL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients