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obsolete neonatal adrenoleukodystrophy

^ http://purl.obolibrary.org/obo/MONDO_0018598

This term is obsolete


Consider

MONDO:0019609

OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). [ Orphanet:44 ]

Term info

database cross reference
  • NCIT:C99251 (MONDO:obsoleteEquivalent)
  • ICD10CM:E71.511 (MONDO:obsoleteEquivalent)
  • UMLS:C0282525 (Orphanet:44/e)
  • SCTID:238061001 (MONDO:obsoleteEquivalent)
  • Orphanet:44 (MONDO:obsoleteEquivalent)
  • GARD:0000559 (MONDO:obsoleteEquivalent)
Subsets

gard_rare, ordo_disease

abbreviation
NALD [ Orphanet:44 ]

IAO 0000231

out of scope

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3222

consider

MONDO:0019609

definition

OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/E71.511, http://purl.obolibrary.org/obo/NCIT_C99251, http://linkedlifedata.com/resource/umls/id/C0282525, http://identifiers.org/snomedct/238061001, http://purl.obolibrary.org/obo/Orphanet_44

has related synonym

adrenoleukodystrophy autosomal neonatal form

id

MONDO:0018598

seeAlso

https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy

Term relations

Subclass of: