albinism, ocular

Preferred Label : albinism, ocular;

MeSH definition : Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.;

MeSH synonym : ocular albinism;

MeSH annotation : hypopigmentation of eye; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Ocular albinism;

Details

Origin ID

D016117;

UMLS CUI

C0078917;

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]
Currated CISMeF NLP mapping
- Albinism [ICD-10 Sub-category]
- Albinism [ICD-10 Sub-category (who)]
- Ocular albinism [ICD-11 More detail]
- Ocular albinism [HPO term]
- Ocular albinism [MedDRA Preferred Term]
- Ocular albinism [ORDO Disease]
- Ocular albinism (disorder) [SNOMED CT concept]
- ocular albinism [DO Concept]
- ocular albinism [Disease (Nov.)]
- ocular albinism, nos [SNOMED Notion]
DO Cross reference
- ocular albinism [DO Concept]
HPO term
- Ocular albinism [HPO term]
Record concept(s)
- albinism, ocular [MeSH concept]
Related MeSH Supplementary Concept(s)
- aland island eye disease [MeSH Supplementary Concept]
- albinism ocular late onset sensorineural deafness [MeSH Supplementary Concept]
- albinism, minimal pigment type [MeSH Supplementary Concept]
- ocular albinism type 1 [MeSH Supplementary Concept]
SNOMED CT : localisation
- eye [MeSH Descriptor]
See also (suggested by CISMeF)
- albinism, oculocutaneous [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ocular albinism [HPO term]
- Ocular albinism [ORDO Disease]
- Ocular albinism [MedDRA Preferred Term]
- Ocular albinism (disorder) [SNOMED CT concept]
- ocular albinism [DO Concept]
- ocular albinism [Disease (Nov.)]
- ocular albinism, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- albinism [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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