Deficiency of histidine a-deaminase

disorder

SNOMED 124628005CUI C0220992

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated histidine in urine

Always present (100%)HP:0002927

Hyperhistidinemia

Always present (100%)HP:0010906

Abnormal vocalization

Very rare (1-4%)HP:0002167

Behavioural disorders

Very rare (1-4%)HP:0000708

Hyperactive behaviour

Very rare (1-4%)HP:0000752

Psychomotor retardation, moderate

Very rare (1-4%)HP:0011343

Specific learning disability

Very rare (1-4%)HP:0001328

Dull intelligence

Excluded (<1%)HP:0001249

Elevated urinary N-ribosylhistidine level

HP:6000621

Related Conditions

Specific enzyme deficiency(parent)

Disorder of histidine metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 124628005
UMLS CUI: C0220992
Fully Specified Name: Deficiency of histidine ammonia-lyase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.