Fetal akinesia, cerebral and retinal haemorrhage syndrome

disorder

SNOMED 763346009CUI C4706410

Overview

Fetal akinesia, cerebral and retinal haemorrhage syndrome 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.

Central hypotonia

Always present (100%)HP:0001252

Decreased fetal movement

Always present (100%)HP:0001558

Decreased nerve conduction velocity

Always present (100%)HP:0000762

Flexion contractures

Always present (100%)HP:0001371

Hydramnios

Always present (100%)HP:0001561

Low birth weight

Always present (100%)HP:0001518

Respiratory function loss

Always present (100%)HP:0002093

Retinal bleeding

Always present (100%)HP:0000573

Slender ribs

Always present (100%)HP:0000883

Areflexia

Frequent (30-79%)HP:0001284

Central nuclei

Frequent (30-79%)HP:0003687

EEG with burst suppression

Frequent (30-79%)HP:0010851

Subdural haematoma

Frequent (30-79%)HP:0100309

Congenital joint contractures

HP:0002803

Elevated serum creatine phosphokinase

HP:0003236

Generalised decreased muscle tone

HP:0001290

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal muscle(parent)

Inherited arthrogryposis(parent)

Quick Facts

SNOMED CT: 763346009
UMLS CUI: C4706410
Fully Specified Name: Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.