Tetraamelia with multiple malformation syndrome

disorder

SNOMED 716249009CUI C2931218

Overview

Tetraamelia with multiple malformation 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.

Absent/small lungs

Very frequent (80-99%)HP:0006703

Aplasia/Hypoplasia involving the pelvis

Very frequent (80-99%)HP:0009103

Hydramnios

Very frequent (80-99%)HP:0001561

Hypoplasia of the nose

Very frequent (80-99%)HP:0009924

Microtia

Very frequent (80-99%)HP:0008551

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Oral cleft

Very frequent (80-99%)HP:0000202

Tetra-amelia

Very frequent (80-99%)HP:0003057

Abnormally closed or absent vagina

Frequent (30-79%)HP:0000148

Abnormally ossified vertebrae

Frequent (30-79%)HP:0100569

Abnormally small eyeball

Frequent (30-79%)HP:0000568

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Acromelia of the lower limbs

Frequent (30-79%)HP:0010494

Amelia involving the upper limbs

Frequent (30-79%)HP:0009812

Anal atresia

Frequent (30-79%)HP:0002023

Aplasia/Hypoplasia of the nipples

Frequent (30-79%)HP:0006709

Cataract

Frequent (30-79%)HP:0000518

Chubby cheeks

Frequent (30-79%)HP:0000293

Cornea of eye less than 10mm in diameter

Frequent (30-79%)HP:0000482

Cryptorchidism

Frequent (30-79%)HP:0000028

De Morsier syndrome

Frequent (30-79%)HP:0100842

Heart septal defect

Frequent (30-79%)HP:0001671

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Iris coloboma

Frequent (30-79%)HP:0000612

Laryngeal abnormalities

Frequent (30-79%)HP:0001600

Lung segmentation defects

Frequent (30-79%)HP:0002101

Missing ribs

Frequent (30-79%)HP:0000921

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Narrow mouth

Frequent (30-79%)HP:0000160

Related Conditions

Multiple system malformation syndrome(parent)

Bilateral amelia of upper limbs(parent)

Bilateral amelia of lower limbs(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716249009
UMLS CUI: C2931218
Fully Specified Name: Tetraamelia with multiple malformation 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.