albinism - CISMeF

Preferred Label : albinism;

MeSH definition : General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.;

MeSH annotation : hypopigmentation of skin, hair, eye; GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; general or unspecified; prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Albinism;

Details

Origin ID

D000417;

UMLS CUI

C0001916;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Albinism [ICD-10 Sub-category]
- Albinism [PASCAL descriptor]
- Albinism [MedDRA Preferred Term]
- Albinism [ICD-10 Sub-category (who)]
- Albinism [NCIt concept]
- Albinism [HPO term]
- Albinism (disorder) [SNOMED CT concept]
- albinism [Disease (Nov.)]
- albinism [Artificial nutrition thesaurus concept]
- albinism, nos [SNOMED Notion]
HPO term
- Albinism [HPO term]
Record concept(s)
- albinism [MeSH concept]
Related MeSH Supplementary Concept(s)
- Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [MeSH Supplementary Concept]
- albinism deafness syndrome [MeSH Supplementary Concept]
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH Supplementary Concept]
- microcephaly albinism digital anomalies syndrome [MeSH Supplementary Concept]
See also
- chediak-higashi syndrome [MeSH Descriptor]
- monophenol monooxygenase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism [ICD-10 Sub-category (who)]
- Albinism [ICD-10 Sub-category]
- Albinism [HPO term]
- Albinism [MedDRA Preferred Term]
- Albinism [PASCAL descriptor]
- Albinism [NCIt concept]
- Albinism (disorder) [SNOMED CT concept]
- albinism [Disease (Nov.)]
- albinism, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Albinism, oculocutaneous, type III [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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