Piebaldism - CISMeF

Preferred Label : Piebaldism;

NCIt definition : A rare, autosomal dominant disorder caused usually by mutations in the KIT gene. It is characterized by abnormalities in the development of melanocytes. It presents with multiple symmetrical hypopigmented or depigmented patches of skin and a midline patch of white hair.;

Details

Origin ID

C85009;

UMLS CUI

C0080024;

Currated CISMeF NLP mapping
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- Piebald trait [OMIM Phenotype]
- Piebaldism [HPO term]
- Piebaldism [ICD-11 More detail]
- Piebaldism [MedDRA Preferred Term]
- Piebaldism [ORDO Disease]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [DO Concept]
- piebaldism [Disease (Nov.)]
- piebaldism [MeSH Descriptor]
- piebaldism [MeSH concept]
DO Cross reference
- piebaldism [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- Piebald trait [OMIM Phenotype]
- Piebaldism [ORDO Disease]
- Piebaldism [HPO term]
- Piebaldism [MedDRA Preferred Term]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [DO Concept]
- piebaldism [Disease (Nov.)]
- piebaldism [MeSH concept]
- piebaldism [MeSH Descriptor]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- KIT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients