Townes-Brocks syndrome

Preferred Label : Townes-Brocks syndrome;

CISMeF synonym : anus, imperforate, with hand, foot and ear anomalies;

MeSH synonym : renal-ear-anal-radial syndrome; REAR syndrome; deafness, sensorineural, with imperforate anus and hypoplastic thumbs; anus, imperforate, with hand, foot, and ear anomalies; deafness, sensorineural, with imperforate anus and thumb anomalies; townes syndrome; Deafness-Imperforate Anus-Hypoplastic thumbs syndrome; imperforate Anus-Hand and foot anomalies syndrome; Renal-Ear-Anal-Radial syndrome (Rear); sensorineural Deafness-Imperforate Anus-Hypoplastic thumbs syndrome; Anal-Ear-Renal-Radial malformation syndrome;

Details

Origin ID

C536974;

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 [NCIt concept]
- Townes-Brocks syndrome [DO Concept]
- Townes-Brocks syndrome [ICD-11 More detail]
- Townes-Brocks syndrome [ORDO Disease]
- Townes-brocks syndrome 1 [OMIM Phenotype]
- townes syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- anus, imperforate [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- thumb [MeSH Descriptor]
ORDO relation(s)
- Townes-Brocks syndrome [ORDO Disease]
Record concept(s)
- Townes-Brocks syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Townes syndrome (disorder) [SNOMED CT concept]
- Townes-Brocks Syndrome [NCIt concept]
- Townes-Brocks syndrome [ORDO Disease]
- Townes-Brocks syndrome [DO Concept]
- Townes-brocks syndrome 1 [OMIM Phenotype]
- townes syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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