Terminology Service for NFDI4Health
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Treacher-Collins syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0002457

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. [ ]

Term info

Label

Treacher-Collins syndrome

Synonyms
  • Franceschetti syndrome
  • Franceschetti-Klein syndrome
  • Treacher-Collins syndrome
  • mandibulofacial dysostosis without limb anomalies
database cross reference
Subsets

ordo_malformation_syndrome, prototype_pattern

closeMatch

http://identifiers.org/meddra/10051456

exactMatch

http://purl.obolibrary.org/obo/DOID_2908, http://purl.obolibrary.org/obo/Orphanet_861, http://purl.obolibrary.org/obo/NCIT_C75018, http://linkedlifedata.com/resource/umls/id/C0265241, https://omim.org/phenotypicSeries/PS154500, http://identifiers.org/snomedct/62767009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020190

has related synonym

Treacher Collins syndrome, TCOF, MFD1, TCS

id

MONDO:0002457

narrowMatch

https://icd.codes/icd10cm/Q75.4