SNOMED Clinical Terms - Dominant dystrophic epidermolysis bullosa with absence of skin - Terms | NCBO BioPortal

SNOMED Clinical Terms Summary

Details
Visualization
Notes ()
Term Mappings (1)
Term Resources

Preferred Name	Dominant dystrophic epidermolysis bullosa with absence of skin
Synonyms	Epidermolysis bullosa dystrophica, Bart type Dominant dystrophic epidermolysis bullosa with absence of skin (disorder)
ID	2689001
Full Id	http://purl.bioontology.org/ontology/SNOMEDCT/2689001
CONCEPTSTATUS	0
CTV3ID	XUAfg
has_associated_morphology	Epidermolysis Congenital absence
has_clinical_course	Courses
has_finding_site	Skin structure Connective tissue structure
has_severity	Severities
isa	Congenital malformation Dominant dystrophic epidermolysis bullosa Aplasia of skin
ISPRIMITIVE	0
occurs_in	Congenital
Semantic_Type	Disease or Syndrome
SNOMEDID	D6-90926
SYNONYM FN	Dominant dystrophic epidermolysis bullosa with absence of skin (disorder)
SYNONYM SY	Epidermolysis bullosa dystrophica, Bart type
TUI	T047
UMLS_CUI	C0268371

Create New Mapping

Mapping To	Ontology	Source	Comment	Relationship	Added By	Added On	Notes
http://purl.bioontology.org/ontology/OMIM/132000	Online Mendelian Inheritance in Man	NLM UMLS (CUI)	CUI: C0268371	skos:closeMatch	loom	05/21/13	View Notes

Map From

Map To

advanced options

The National Center for Biomedical Ontology is one of the National Centers for Biomedical Computing supported by the NHGRI, the NHLBI, and the NIH Common Fund under grant U54-HG004028.
Copyright © 2005‑2013, The Board of Trustees of Leland Stanford Junior University. All rights reserved.
NCBO Website Release Notes Terms of Use Privacy Policy How to Cite