Type III short rib polydactyly syndrome

disorder

SNOMED 254051008CUI C0432197

Overview

Type III short rib polydactyly 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 maturation of the pelvis bone

Very frequent (80-99%)HP:0009106

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Belly bloating

Very frequent (80-99%)HP:0003270

Dwarfism, short-limbed

Very frequent (80-99%)HP:0008873

Hypoplastic hands

Very frequent (80-99%)HP:0004279

Lethal dwarfism identifiable at birth

Very frequent (80-99%)HP:0005716

Low chest circumference

Very frequent (80-99%)HP:0000774

Micromelia

Very frequent (80-99%)HP:0002983

Respiratory function loss

Very frequent (80-99%)HP:0002093

Short ribs

Very frequent (80-99%)HP:0000773

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Small feet

Very frequent (80-99%)HP:0001773

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Absent or minimally ossified vertebral bodies

Frequent (30-79%)HP:0004599

Big calvaria

Frequent (30-79%)HP:0000256

Congenital hepatic fibrosis

Frequent (30-79%)HP:0002612

Cryptorchidism

Frequent (30-79%)HP:0000028

Didelphic uterus

Frequent (30-79%)HP:0003762

Flat nasal bridge

Frequent (30-79%)HP:0005280

Frontal protuberance

Frequent (30-79%)HP:0002007

Hook-shaped clavicle

Frequent (30-79%)HP:0000895

Hydronephrosis

Frequent (30-79%)HP:0000126

Hydrops fetalis

Frequent (30-79%)HP:0001789

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Palpebronasal fold

Frequent (30-79%)HP:0000286

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Small kidneys

Frequent (30-79%)HP:0000089

Related Conditions

Short rib polydactyly syndrome(parent)

Quick Facts

SNOMED CT: 254051008
UMLS CUI: C0432197
Fully Specified Name: Type III short rib polydactyly 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.