Terminology Service for NFDI4Health
JSON

histidinemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0009345

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. [ ]

Term info

Label

histidinemia

Synonyms
  • HIS deficiency
  • Hal deficiency
  • Histidinuria
  • histidase deficiency
  • histidine ammonia-lyase deficiency
  • histidinemia
  • histidinuria
  • hyperhistidinemia
database cross reference
Subsets

gard_rare, ordo_disease, mostly_harmless

exactMatch

https://omim.org/entry/235800, http://purl.obolibrary.org/obo/Orphanet_2157, http://purl.obolibrary.org/obo/DOID_0060168, http://linkedlifedata.com/resource/umls/id/C0220992, http://identifiers.org/mesh/C538320, http://identifiers.org/snomedct/410058007, https://icd.codes/icd10cm/E70.41

id

MONDO:0009345

narrowMatch

https://icd.codes/icd10cm/E70.8

see also

https://github.com/monarch-initiative/mondo/issues/4521, https://rarediseases.info.nih.gov/diseases/6661/histidinemia

Term relations