Microphthalmia, microtia, foetal akinesia syndrome

disorder

SNOMED 1230344000CUI C2931224

Overview

Microphthalmia, microtia, foetal akinesia 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.

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Microtia

Very frequent (80-99%)HP:0008551

Nanophthalmos

Very frequent (80-99%)HP:0000568

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

PDA

Very frequent (80-99%)HP:0001643

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Abnormality of the bladder

Frequent (30-79%)HP:0000014

Abnormality of the upper urinary tract

Frequent (30-79%)HP:0010935

Duodenal stenosis/atresia

Frequent (30-79%)HP:0100867

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Increased amniotic fluid index

Frequent (30-79%)HP:0001561

Uroureter

Frequent (30-79%)HP:0000072

Related Conditions

Bilateral microphthalmos(parent)

Microtia(parent)

Common truncus arteriosus(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Arthrogryposis multiplex congenita(parent)

Quick Facts

SNOMED CT: 1230344000
UMLS CUI: C2931224
Fully Specified Name: Microphthalmia, microtia, fetal akinesia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.