Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

disorder

SNOMED 723610009CUI C1849069

Overview

Spondylocostal dysostosis with anal atresia and genitourinary 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.

2 vessel cord

HP:0001195

Absent external genitalia

HP:0000042

Absent urethral opening

HP:0000068

Absent vagina

HP:0003250

Anal atresia

HP:0002023

Belly bloating

HP:0003270

Block vertebrae

HP:0003305

Cobb angle greater than ten degrees

HP:0002650

Decreased amniotic fluid index

HP:0001562

Hemivertebra

HP:0002937

Hydronephrosis

HP:0000126

Increased distance between eyes

HP:0000316

Inguinal hernia

HP:0000023

Missing ribs

HP:0000921

Narrow skull shape

HP:0000268

Poorly developed lungs

HP:0002089

Rib fusion

HP:0000902

Short neck

HP:0000470

Short ribs

HP:0000773

Slender ribs

HP:0000883

Supernumerary vertebrae

HP:0002946

uterus absent

HP:0000151

Vertebral fusion

HP:0002948

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysostosis(parent)

Congenital anomaly of rib(parent)

Anal atresia(parent)

Genitourinary congenital anomalies(parent)

Hereditary disorder of musculoskeletal system(parent)

Digestive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Spinal dysplasia(parent)

Congenital thoracic dysplasia(parent)

Quick Facts

SNOMED CT: 723610009
UMLS CUI: C1849069
Fully Specified Name: Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.