Adenosylcobalamin synthesis defect

disorder

SNOMED 69614003CUI C0342720

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.

Dehydration

Very frequent (80-99%)HP:0001944

Enlarged liver

Very frequent (80-99%)HP:0002240

Nausea and vomiting

Very frequent (80-99%)HP:0002017

Persistent vegetative state

Very frequent (80-99%)HP:0001259

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Respiratory function loss

Very frequent (80-99%)HP:0002093

Torpor

Very frequent (80-99%)HP:0001254

Central hypotonia

Frequent (30-79%)HP:0001252

High blood ammonia levels

Frequent (30-79%)HP:0001987

Mental and motor retardation

Frequent (30-79%)HP:0001263

Poor school performance

Frequent (30-79%)HP:0001249

Decreased haemoglobin

Occasional (5-29%)HP:0001903

Renal failure in adulthood

Occasional (5-29%)HP:0000083

Related Conditions

Cobalamin A disease(child)

Cobalamin B disease(child)

Methylmalonic acidemia(parent)

Quick Facts

SNOMED CT: 69614003
UMLS CUI: C0342720
Fully Specified Name: Adenosylcobalamin synthesis defect (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.