Terminology Service for NFDI4Health
inherited ichthyosis
Go to external page
http://purl.obolibrary.org/obo/MONDO_0015947
Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. [ http://www.ncbi.nlm.nih.gov/pubmed/20643494 ]
Term info
Label
inherited ichthyosis
Synonyms
- congenital ichthyosis of skin
- genetic ichthyosis
- hereditary ichthyosis (disease)
- inherited genetic ichthyosis
Subsets
disease_grouping, ordo_group_of_disorders
closeMatch
http://identifiers.org/meddra/10021202
exactMatch
http://purl.obolibrary.org/obo/Orphanet_183435, https://icd.codes/icd10cm/Q80, http://identifiers.org/snomedct/13059002
has related synonym
congenital ichthyosis, fish skin, fish scale disease, ichthyosis congenita
id
MONDO:0015947
see also
https://github.com/monarch-initiative/mondo/issues/2114, https://github.com/monarch-initiative/mondo/issues/4293