Incontinentia Pigmenti

Preferred Label : Incontinentia Pigmenti;

NCIt related terms : Incontinentia Pigmenti Syndrome;

NCIt definition : A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.;

Details

Origin ID

C84787;

UMLS CUI

C0021171;

Automatic exact mappings (from CISMeF team)
- Bloch-Sulzberger syndrome [DO Concept]
- Incontinentia pigmenti [MedDRA LLT]
- hypomelanosis of Ito [DO Concept]
Currated CISMeF NLP mapping
- Incontinentia pigmenti [ICD-10 Sub-category]
- Incontinentia pigmenti [PASCAL descriptor]
- Incontinentia pigmenti [ICD-11 Sub-sub category]
- Incontinentia pigmenti [ICD-10 Sub-category (who)]
- Incontinentia pigmenti [OMIM Phenotype]
- Incontinentia pigmenti [ORDO Disease]
- Incontinentia pigmenti syndrome (disorder) [SNOMED CT concept]
- incontinentia pigmenti [Disease (Nov.)]
- incontinentia pigmenti [MeSH Descriptor]
- incontinentia pigmenti [MeSH concept]
- incontinentia pigmenti syndrome [SNOMED Notion]
- incontinentia pigmenti, familial male-lethal type [MeSH concept]
- incontinentia pigmenti, familial male-lethal type [MeSH Supplementary Concept]
DO Cross reference
- Bloch-Sulzberger syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bloch-Sulzberger syndrome [DO Concept]
- Bloch-Sulzberger syndrome [MedDRA Preferred Term]
- Incontinentia pigmenti [ICD-10 Sub-category]
- Incontinentia pigmenti [OMIM Phenotype]
- Incontinentia pigmenti [ORDO Disease]
- Incontinentia pigmenti [MedDRA LLT]
- Incontinentia pigmenti [ICD-10 Sub-category (who)]
- Incontinentia pigmenti syndrome (disorder) [SNOMED CT concept]
- incontinentia pigmenti [Disease (Nov.)]
- incontinentia pigmenti [MeSH concept]
- incontinentia pigmenti [MeSH Descriptor]
- incontinentia pigmenti syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_disease
- Subungual Tumor of Incontinentia Pigmenti [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IKBKG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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