Homocystinuria without methylmalonic aciduria

disorder

SNOMED 721225009CUI C4303479

Overview

Homocystinuria without methylmalonic aciduria is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Megaloblastic bone marrow

Very frequent (80-99%)HP:0001980

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Epilepsy

Frequent (30-79%)HP:0001250

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Psychosis

Frequent (30-79%)HP:0000709

Undergrowth

Frequent (30-79%)HP:0001508

Ataxia

Occasional (5-29%)HP:0001251

Dullness

Occasional (5-29%)HP:0001254

Poor vision

Occasional (5-29%)HP:0000505

Progressive dementia

Occasional (5-29%)HP:0000726

Vomiting

Occasional (5-29%)HP:0002013

Related Conditions

Methylcobalamin deficiency type cbl G(child)

Methylcobalamin deficiency type cblE(child)

Homocystinuria(parent)

Recessive hereditary disorder (autosomal)(parent)

Functional defects of methionine synthase(parent)

Quick Facts

SNOMED CT: 721225009
UMLS CUI: C4303479
Fully Specified Name: Homocystinuria without methylmalonic aciduria (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.