Congenital microgastria with limb reduction defect syndrome

disorder

SNOMED 721880009CUI C4303067

Overview

Congenital microgastria with limb reduction defect 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.

Abnormal morphology of the radius

Very frequent (80-99%)HP:0002818

Abnormality of the spleen

Very frequent (80-99%)HP:0001743

Esophagitis

Very frequent (80-99%)HP:0100633

Feeding difficulties

Very frequent (80-99%)HP:0011968

Gastro-esophageal reflux

Very frequent (80-99%)HP:0002020

Microgastria

Very frequent (80-99%)HP:0100841

Poor growth

Very frequent (80-99%)HP:0001510

Poor weight gain

Very frequent (80-99%)HP:0001508

Stomach hernia

Very frequent (80-99%)HP:0002036

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Abnormal humerus morphology

Frequent (30-79%)HP:0031095

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Abnormalities of the fingers

Frequent (30-79%)HP:0001167

Bulging forehead

Frequent (30-79%)HP:0011220

Dysplastic kidneys

Frequent (30-79%)HP:0000110

Frontal protuberance

Frequent (30-79%)HP:0002007

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Rhomboid shaped head

Frequent (30-79%)HP:0001357

Torticollis, congenital

Frequent (30-79%)HP:0005988

Abnormal connection between trachea and esophagus

Occasional (5-29%)HP:0002575

Abnormal cortical gyration

Occasional (5-29%)HP:0002536

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormally small eyeball

Occasional (5-29%)HP:0000568

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Absence of eyeballs

Occasional (5-29%)HP:0000528

Absence of the septum pellucidum

Occasional (5-29%)HP:0001331

Absent anus

Occasional (5-29%)HP:0002023

Absent hand

Occasional (5-29%)HP:0004050

Amelia

Occasional (5-29%)HP:0009827

Aplastic clavicle

Occasional (5-29%)HP:0006660

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Longitudinal deficiency of limb(parent)

Congenital microgastria(parent)

Quick Facts

SNOMED CT: 721880009
UMLS CUI: C4303067
Fully Specified Name: Congenital microgastria with limb reduction defect syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.