Menkes Disease

Preferred Label : Menkes Disease;

NCIt synonyms : Kinky Hair Syndrome; Menkes Kinky Hair Syndrome;

NCIt related terms : Menkes Kinky-Hair Syndrome;

NCIt definition : An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.;

Details

Origin ID

C75486;

UMLS CUI

C0022716;

Automatic exact mappings (from CISMeF team)
- Menkes (kinky hair) syndrome [ACR pathology]
- Menkes (kinky hair) syndrome [ACR pathology]
- Menkes syndrome [PASCAL descriptor]
Currated CISMeF NLP mapping
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes disease [OMIM Phenotype]
- Menkes disease [ORDO Disease]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky-hair syndrome [SNOMED Notion]
DO Cross reference
- Menkes disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes disease [OMIM Phenotype]
- Menkes disease [ORDO Disease]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky-hair syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATP7A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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