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Acrocephalopolydactyly

disorder
SNOMED 720417003CUI C3495588

Overview

Acrocephalopolydactyly 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
Very frequent (80-99%)HP:0001538
Abnormal head
Very frequent (80-99%)HP:0000234
Abnormal mouth
Very frequent (80-99%)HP:0000153
Acrocephaly
Very frequent (80-99%)HP:0000263
Back knee
Very frequent (80-99%)HP:0002816
Brachydactyly
Very frequent (80-99%)HP:0001156
Cystic hygroma of the neck
Very frequent (80-99%)HP:0000476
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Kidney malformation
Very frequent (80-99%)HP:0012210
Microtia
Very frequent (80-99%)HP:0008551
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Obliterated fontanelles
Very frequent (80-99%)HP:0005458
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Short limbs
Very frequent (80-99%)HP:0009826
Short neck
Very frequent (80-99%)HP:0000470
shortened long tubular bones
Very frequent (80-99%)HP:0003026
Thoracic hypoplasia
Very frequent (80-99%)HP:0005257
Omphalocoele
Frequent (30-79%)HP:0001539
Pancreatic fibrosis
Frequent (30-79%)HP:0100732
Ascites
HP:0001541
Craniosyostosis
HP:0001363
Diaphragmatic sequestrum
HP:0006544
Dysplastic ears
HP:0000377
Enlarged kidney
HP:0000105
Enlarged liver
HP:0002240
Hypoplasia of the small intestine
HP:0004790
Liver fibrosis
HP:0001395
Low-set ears
HP:0000369
Micromelia
HP:0002983

Quick Facts

SNOMED CT
720417003
UMLS CUI
C3495588
Fully Specified Name
Acrocephalopolydactyly (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.