Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

disorder

SNOMED 733118006CUI C1859754

Overview

Aphalangy, hemivertebra, urogenital, intestinal dysgenesis 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.

Aplasia/Hypoplasia of the phalanges of the toes

Very frequent (80-99%)HP:0010173

Foot ectrodactyly

Very frequent (80-99%)HP:0001839

Hemivertebra

Very frequent (80-99%)HP:0002937

Hypoplastic/absent phalanges

Very frequent (80-99%)HP:0009767

Abnormal female external genitalia

Frequent (30-79%)HP:0000055

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Abnormality of pelvic girdle bone morphology

Frequent (30-79%)HP:0002644

Anonychia

Frequent (30-79%)HP:0001798

Asymmetry of the thorax

Frequent (30-79%)HP:0001555

Cloacogenic bladder

Frequent (30-79%)HP:0012621

Oligohydramnios

Frequent (30-79%)HP:0001562

Partial syndactyly

Frequent (30-79%)HP:0006101

PDA

Frequent (30-79%)HP:0001643

Poorly developed lungs

Frequent (30-79%)HP:0002089

Renal hypoplasia/aplasia

Frequent (30-79%)HP:0008678

Syndactyly of feet

Frequent (30-79%)HP:0001770

Ulnohumeral dislocation

Frequent (30-79%)HP:0003042

Vaginal fistula

Frequent (30-79%)HP:0004320

Related Conditions

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

Congenital hemivertebra(parent)

Recessive hereditary disorder (autosomal)(parent)

Adactyly(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Abnormality of limb bone morphology(parent)

Abnormality of long bone morphology(parent)

Quick Facts

SNOMED CT: 733118006
UMLS CUI: C1859754
Fully Specified Name: Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.