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Poikiloderma with Neutropenia
MeSH Supplementary Concept Data 2025
Details
Concepts
MeSH Supplementary
Poikiloderma with Neutropenia
Unique ID
C565820
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565820
Entry Term(s)
Poikiloderma with Neutropenia, Clericuzio-Type
Registry Numbers
0
Heading Mapped to
*Neutropenia
*Skin Abnormalities
Frequency
33
Note
A disorder characterized by abnormal skin pigmentation regions (poikiloderma),
PALMOPLANTAR KERATODERMA
; and recurrent infections due to neutropenia. It is associated with mutations in the C16orf57 (USB1) gene.
OMIM
: 604173
Date of Entry
2012/11/05
Revision Date
2016/09/29
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Poikiloderma with Neutropenia
Preferred
Concept UI
M0566120
Registry Numbers
0
Terms
Poikiloderma with Neutropenia
Preferred Term
Term UI
T831834
Date
10/19/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
Poikiloderma with Neutropenia, Clericuzio-Type
Term UI
T831835
Date
10/19/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
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