Dyschromatosis Symmetrica Hereditaria

Preferred Label : Dyschromatosis Symmetrica Hereditaria;

NCIt synonyms : Reticulate Acropigmentation of Dohi; Symmetric Dyschromatosis of the Extremities; Dyschromatosis Symmetrica Hereditaria 1; RAD; DSH1;

NCIt definition : A rare, autosomal dominant inherited disorder caused by heterozygous mutation in the DSRAD gene. Most cases have been reported from countries in East Asia. It is characterized by the presence of hyperpigmented and hypopigmented macules on the dorsal aspect of the extremities and face.;

Details

Origin ID

C118435;

UMLS CUI

C0406775;

Automatic exact mappings (from CISMeF team)
- Right axis deviation [HPO term]
- Rrad ras-related glycolysis inhibitor and calcium channel regulator [OMIM gene]
- domestic shorthaired cat [SNOMED Notion]
- ribosome-associated ubiquitin-dependent protein catabolic process [GO term]
Currated CISMeF NLP mapping
- Dyschromatosis symmetrica hereditaria [OMIM Phenotype]
- Dyschromatosis symmetrica hereditaria [ORDO Disease]
- Dyschromatosis symmetrica hereditaria 1 [MeSH concept]
- Hereditary symmetrical dyschromatosis [ICD-11 More detail]
- Symmetrical dyschromatosis of extremities (disorder) [SNOMED CT concept]
- dyschromatosis symmetrica hereditaria [DO Concept]
- dyschromatosis symmetrica hereditaria [Disease (Nov.)]
- dyschromatosis symmetrica hereditaria 1 [MeSH Supplementary Concept]
DO Cross reference
- dyschromatosis symmetrica hereditaria [DO Concept]
False automatic mappings
- Radiology [LOINC Class]
- Radiology studies [LOINC component]
- rad [IUPAC Unit]
- rad (qualifier value) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dyschromatosis symmetrica hereditaria [ORDO Disease]
- Dyschromatosis symmetrica hereditaria [OMIM Phenotype]
- Dyschromatosis symmetrica hereditaria 1 [MeSH concept]
- Hereditary symmetrical dyschromatosis [ICD-11 More detail]
- Symmetrical dyschromatosis of extremities (disorder) [SNOMED CT concept]
- dyschromatosis symmetrica hereditaria [DO Concept]
- dyschromatosis symmetrica hereditaria [Disease (Nov.)]
- dyschromatosis symmetrica hereditaria 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ADAR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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