Beemer-Langer type short rib polydactyly syndrome

disorder

SNOMED 254052001CUI C0432198

Overview

Beemer-Langer type 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.

Abdominal protuberance

HP:0001538

Ambiguous external genitalia

HP:0000062

Bending of the arm

HP:0006488

Bowed lower limbs

HP:0002979

Brachydactyly

HP:0001156

Broad foot

HP:0001769

Broad palm

HP:0001169

Central cleft palate

HP:0009099

Dysplastic ears

HP:0000377

Edema

HP:0000969

Enlarged liver

HP:0002240

Fetal anencephaly

HP:0002323

Flat facial shape

HP:0012368

Hamartoma of tongue

HP:0011802

High forehead

HP:0000348

Horizontal ribs

HP:0000888

Hypoplastic hands

HP:0004279

Hypoplastic nipples

HP:0002557

Increased amniotic fluid index

HP:0001561

Increased distance between eyes

HP:0000316

Increased size of skull

HP:0000256

Inguinal hernia

HP:0000023

Intestinal malrotation

HP:0002566

Intrauterine growth retardation, IUGR

HP:0001511

Large spleen

HP:0001744

Lobulate tongue

HP:0000180

Low chest circumference

HP:0000774

Low-set ears

HP:0000369

Midline cleft lip

HP:0000161

Natal tooth

HP:0000695

Related Conditions

Short rib polydactyly syndrome(parent)

Quick Facts

SNOMED CT: 254052001
UMLS CUI: C0432198
Fully Specified Name: Type IV 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.