Neonatal Adrenoleukodystrophy

Preferred Label : Neonatal Adrenoleukodystrophy;

NCIt definition : A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.;

Détails

Origin ID

C99251;

UMLS CUI

C0282525;

Currated CISMeF NLP mapping
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Neonatal adrenoleukodystrophy [ICD-11 More detail]
- Neonatal adrenoleukodystrophy (disorder) [SNOMED CT concept]
- adrenoleukodystrophy, neonatal [MeSH concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal adrenoleukodystrophy [ORDO Disease]
- Neonatal adrenoleukodystrophy [ICD-11 More detail]
- Neonatal adrenoleukodystrophy (disorder) [SNOMED CT concept]
- adrenoleukodystrophy, neonatal [MeSH concept]
Validated automatic mappings to NTBT
- peroxisomal disorders [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Nervous System [NCIt concept]
disease_mapped_to_gene
- Peroxisome Biogenesis Factor Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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