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Schneckenbecken dysplasia

disorder
SNOMED 254049009CUI C0432194

Overview

Schneckenbecken dysplasia 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
Always present (100%)HP:0001538
Acetabular angle flat
Always present (100%)HP:0003180
Bullet vertebral body
Always present (100%)HP:0003300
Flattened vertebral bodies
Always present (100%)HP:0000926
Hypotrophic midface
Always present (100%)HP:0011800
Narrowing of interpediculate distances
Always present (100%)HP:0008450
Nonimmune hydrops fetalis
Always present (100%)HP:0001790
Schneckenbecken dysplasia
Always present (100%)HP:0031026
Short limbs
Always present (100%)HP:0009826
shortened long tubular bones
Always present (100%)HP:0003026
Thoracic hypoplasia
Always present (100%)HP:0005257
Umbilical hernia
Always present (100%)HP:0001537
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Hook-shaped clavicle
Very frequent (80-99%)HP:0000895
Hypoplastic vertebral bodies
Very frequent (80-99%)HP:0008479
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Low chest circumference
Very frequent (80-99%)HP:0000774
Lymphatic obstruction
Very frequent (80-99%)HP:0001004
Micromelia
Very frequent (80-99%)HP:0002983
Short fibula
Very frequent (80-99%)HP:0003038
Short ribs
Very frequent (80-99%)HP:0000773
Small wings of the pelvic girdle
Very frequent (80-99%)HP:0000946
Wide calf bone
Very frequent (80-99%)HP:0012107
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Cryptorchidism
Frequent (30-79%)HP:0000028
Hypoplastic toenails
Frequent (30-79%)HP:0001800
Narrow skull shape
Frequent (30-79%)HP:0000268

Quick Facts

SNOMED CT
254049009
UMLS CUI
C0432194
Fully Specified Name
Schneckenbecken dysplasia (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.