Preferred Label : Townes-Brocks syndrome;
ICD-11 definition : Townes-Brocks syndrome is a developmental anomalies syndrome characterized by four
main signs: anal defects, ranging from simple anal anteversion to an imperforate anus
with a rectovaginal fistula; malformation of the external ear (pretragial tags, malformation
of the helix, stenosed external acoustic meatus); anomalies of the digits (three-phalanged
thumb, bifid thumb, hexadactyly); and all types and degrees of deafness.;
Origin ID : 66554749;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Townes-Brocks syndrome is a developmental anomalies syndrome characterized by four
main signs: anal defects, ranging from simple anal anteversion to an imperforate anus
with a rectovaginal fistula; malformation of the external ear (pretragial tags, malformation
of the helix, stenosed external acoustic meatus); anomalies of the digits (three-phalanged
thumb, bifid thumb, hexadactyly); and all types and degrees of deafness.
