Dilution, pigmentary

Preferred Label : Dilution, pigmentary;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : HYPOPIGMENTATION; Albinism, partial; Albinoidism, oculocutaneous, autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : %126070;

Détails

Origin ID

126070;

UMLS CUI

C1876214;

Automatic exact mappings (from CISMeF team)
- Hypopigmentation, CTCAE [NCIt concept]
Currated CISMeF NLP mapping
- Hypopigmentation [PASCAL descriptor]
- Partial albinism [ICD-11 More detail]
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- Skin Hypopigmentation [NCIt concept]
- dilution, pigmentary [MeSH concept]
- dilution, pigmentary [MeSH Supplementary Concept]
- hypopigmentation [Disease (Nov.)]
- partial albinism [SNOMED Notion]
- piebaldism [DO Concept]
- piebaldism [MeSH Descriptor]
False automatic mappings
- Hypopigmentation (morphologic abnormality) [SNOMED CT concept]
- Hypopigmentation of skin (disorder) [SNOMED CT concept]
- Hypopigmentation of the skin [HPO term]
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- hypopigmentation [MeSH Descriptor]
- hypopigmentation [MeSH concept]
- hypopigmentation, nos [SNOMED Notion]
- partial albinism [SNOMED Notion]
- piebaldism [MeSH Descriptor]
- piebaldism [MeSH concept]
- skin pigmentation disorders [MedlinePlus Topic]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmentation of the skin [HPO term]
- Iris hypopigmentation [HPO term]
Not associated HPO term(s)
- Nystagmus [HPO term]
- Photophobia [HPO term]
See also inter- (CISMeF)
- Piebaldism [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dilution, pigmentary [MeSH Supplementary Concept]
- dilution, pigmentary [MeSH concept]

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