piebaldism - CISMeF

Preferred Label : piebaldism;

MeSH definition : Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.;

MeSH synonym : piebald trait; Piebald Traits; Trait, Piebald; Traits, Piebald;

CISMeF synonym : albinism, cutaneous; albinism, partial;

Related MeSH term : Cutaneous Albinism; Partial Albinism;

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

Détails

Origin ID

D016116;

UMLS CUI

C0080024;

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
- Dilution, pigmentary [OMIM Phenotype]
- 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 [NCIt concept]
- Piebaldism [ORDO Disease]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [Disease (Nov.)]
- piebaldism [DO Concept]
DO Cross reference
- piebaldism [DO Concept]
False automatic mappings
- Dilution, pigmentary [OMIM Phenotype]
HPO term
- Partial albinism [HPO term]
- Piebaldism [HPO term]
Manual NTBT mappings (CISMeF)
- Eyebrow/eyelashes pigmentation anomaly [ORDO Disease]
- Genetic hypopigmentation of the skin [ORDO Disease]
- Hypopigmentation of the skin [ORDO Disease]
- Pigmentation disorder with eye involvement, excluding albinism [ORDO Disease]
ORDO relation(s)
- Piebaldism [ORDO Disease]
Record concept(s)
- Albinism, Cutaneous [MeSH concept]
- Albinism, Partial [MeSH concept]
- piebaldism [MeSH concept]
Related MeSH Supplementary Concept(s)
- ermine phenotype [MeSH Supplementary Concept]
- griscelli syndrome type 1 [MeSH Supplementary Concept]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
- griscelli syndrome type 3 [MeSH Supplementary Concept]
- telfer sugar jaeger syndrome [MeSH Supplementary Concept]
See also
- proto-oncogene proteins c-kit [MeSH Descriptor]
- waardenburg syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- Partial albinism [ICD-11 More detail]
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 [NCIt concept]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [DO Concept]
- piebaldism [Disease (Nov.)]

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