Preferred Name

Amelia
Synonyms

Congenital absence of limb

Amelia (disorder)

Amelia, NOS

Congenital absence of limb, NOS

Mesomelic dwarf

Phocomelia, NOS

Phocomelic dwarf
ID

62588002
Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/62588002
CONCEPTSTATUS

0
CTV3ID

XUHnh
has_associated_morphology

Congenital absence
has_clinical_course

Courses
has_finding_site

Limb structure
has_severity

Severities
isa

Congenital malformation

Congenital anomaly of limb
ISPRIMITIVE

0
occurs_in

Congenital
Semantic_Type

Congenital Abnormality

Disease or Syndrome
SNOMEDID

D4-12102
SYNONYM FN

Amelia (disorder)
SYNONYM IS

Amelia, NOS

Congenital absence of limb, NOS

Mesomelic dwarf

Phocomelia, NOS

Phocomelic dwarf
SYNONYM SY

Congenital absence of limb
TUI

T019

T047
UMLS_CUI

C0002447

C1306039

C0410536

C0031575
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34370 NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D004480 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q73.0 ICD10 NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/CST/ECTROMELIA Coding Symbols for a Thesaurus of Adverse Reaction Terms NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10001926 MedDRA NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q73.1 ICD10 NLM UMLS (CUI) CUI: C0031575 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10001926 MedDRA NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10034923 MedDRA NLM UMLS (CUI) CUI: C0031575 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/WHO/0684 WHO Adverse Reaction Terminology NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PG443 Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0410536 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PF40. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D004480 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.obolibrary.org/obo/HP_0009827 Human Phenotype Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PF41. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/WHO/0684 WHO Adverse Reaction Terminology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1486 Fanconi Anemia (FA) Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PF40. Read Codes, Clinical Terms Version 3 (CTV3) NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q73.1 ICD10CM NLM UMLS (CUI) CUI: C0031575 skos:closeMatch loom 05/21/13 View Notes
http://purl.org/obo/owl/HP#HP_0009827 Bone Dysplasia Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/OMIM/MTHU017168 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0031575 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q73.0 ICD10CM NLM UMLS (CUI) CUI: C0002447 skos:closeMatch loom 05/21/13 View Notes
http://www.orphanet.org/rdfns#pat_id_20913 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PF44. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0031575 skos:closeMatch loom 05/21/13 View Notes
http://www.orphanet.org/rdfns#pat_id_20913 Orphanet Ontology of Rare Diseases NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/CST/ECTROMELIA Coding Symbols for a Thesaurus of Adverse Reaction Terms NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes

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