Absent radius, anogenital anomalies syndrome

disorder

SNOMED 771264005CUI C4749807

Overview

Absent radius, anogenital anomalies 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.

Decreased amniotic fluid index

Very frequent (80-99%)HP:0001562

Lobster claw hand

Very frequent (80-99%)HP:0100257

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Oligodactyly

Very frequent (80-99%)HP:0012165

Shortening of radius

Very frequent (80-99%)HP:0002984

Absent anus

Frequent (30-79%)HP:0002023

Atresia of the rectum

Frequent (30-79%)HP:0025023

Perineal fistula

Frequent (30-79%)HP:0004871

Rectovaginal fistula

Frequent (30-79%)HP:0000143

Related Conditions

Congenital anomaly of perineum(parent)

Hereditary disorder of musculoskeletal system(parent)

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

X-linked hereditary disease(parent)

Dysostosis(parent)

Developmental hereditary disorder(parent)

Congenital dysplasia of limb(parent)

Aplasia of radius(parent)

Quick Facts

SNOMED CT: 771264005
UMLS CUI: C4749807
Fully Specified Name: Absent radius, anogenital anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.