Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death

disorder

SNOMED 703388005CUI C1864002

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.

Aminoaciduria

Always present (100%)HP:0003355

Cirrhosis

Very frequent (80-99%)HP:0001394

De toni-fanconi-debre syndrome

Very frequent (80-99%)HP:0001994

Deafness

Very frequent (80-99%)HP:0000365

Decreased transferrin saturation

Very frequent (80-99%)HP:0012464

Elevated hepatic iron concentration

Very frequent (80-99%)HP:0012465

Fatty liver

Very frequent (80-99%)HP:0001397

Increased serum ferritin level

Very frequent (80-99%)HP:0003281

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Lacticacidosis

Very frequent (80-99%)HP:0003128

Slowed or blocked flow of bile from liver

Very frequent (80-99%)HP:0001396

Congenital hypotonia

Occasional (5-29%)HP:0001319

Chronic lactic acidosis

HP:0004925

Increased circulating iron concentration

HP:0003452

Increased serum pyruvate

HP:0003542

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 703388005
UMLS CUI: C1864002
Fully Specified Name: Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.