histiocytosis with joint contractures and sensorineural deafness

Preferred Label : histiocytosis with joint contractures and sensorineural deafness;

MeSH synonym : faisalabad histiocytosis; pigmented hypertrichosis with Insulin-Dependent diabetes mellitus syndrome; hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss;

Details

Origin ID

C538322;

UMLS CUI

C1864445;

Automatic exact mappings (from CISMeF team)
- Faisalabad histiocytosis [ICD-11 More detail]
- Histiocytosis-lymphadenopathy plus syndrome [OMIM Phenotype]
- histiocytosis-lymphadenopathy plus syndrome [DO Concept]
Currated CISMeF NLP mapping
- Faisalabad histiocytosis [ORDO Disease]
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- contracture [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- histiocytosis [MeSH Descriptor]
Record concept(s)
- Histiocytosis with joint contractures and sensorineural deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Faisalabad histiocytosis [ORDO Disease]
- H syndrome [ORDO Disease]
- H syndrome [PASCAL descriptor]
- H syndrome [Disease (Nov.)]
- Histiocytosis-lymphadenopathy plus syndrome [OMIM Phenotype]
- Histiocytosis-lymphadenopathy plus syndrome [MedDRA Preferred Term]
- Histiocytosis-lymphadenopathy plus syndrome (disorder) [SNOMED CT concept]
- Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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