Preferred Name

Treacher Collins syndrome
Synonyms

Mandibulofacial dysostosis

Treacher Collins syndrome (disorder)
ID

82203000
Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/82203000
CONCEPTSTATUS

0
CTV3ID

XE2ud
has_associated_morphology

Congenital malformation
has_clinical_course

Courses
has_finding_site

Bone structure of head
has_severity

Severities
inverse_may_be_a

(Mandibulofacial dysostosis) or (Franceschetti syndrome)
isa

Disorder of head

Multiple malformation syndrome with facial defects as major feature

Congenital connective tissue disorder

Disorder of bone
ISPRIMITIVE

1
occurs_in

Congenital
same_as

Treacher Collins syndrome
Semantic_Type

Congenital Abnormality
SNOMEDID

D4-00722
SYNONYM FN

Treacher Collins syndrome (disorder)
SYNONYM SY

Mandibulofacial dysostosis
TUI

T019
UMLS_CUI

C0242387
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://purl.bioontology.org/ontology/OMIM/154500 Online Mendelian Inheritance in Man NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Treacher_Collins_Syndrome NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q75.4 ICD10CM NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10044554 MedDRA NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q75.4 ICD10CM NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://www.ebi.ac.uk/efo/EFO_0003954 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10051456 MedDRA NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10051456 MedDRA NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/C538661 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/HP_0005321 Human Phenotype Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#D008342 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10044554 MedDRA NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_293 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_2908 Human disease ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q75.4 ICD10 NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C05.660.207.231.576 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.org/obo/owl/HP#HP_0005321 Bone Dysplasia Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/XE2ud Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_2908 NIF Dysfunction NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000001939 National Drug File NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_17091 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/154500 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10051464 MedDRA NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C16.131.621.207.231.576 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_17091 Orphanet Ontology of Rare Diseases NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C05.116.099.370.231.576 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D008342 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/XE2ud Read Codes, Clinical Terms Version 3 (CTV3) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q75.4 ICD10 NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://purl.org/skeletome/bonedysplasia#Mandibulo-facial_dysostosis Bone Dysplasia Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D008342 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_2908 Neuroscience Information Framework Standard ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000001939 National Drug File NLM UMLS (CUI) CUI: C0242387 skos:closeMatch loom 04/02/13 View Notes
http://www.co-ode.org/ontologies/galen#TreacherCollinsSyndrome Galen NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_293 Orphanet Ontology of Rare Diseases NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes

Map From

Map To


advanced options