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Short rib polydactyly syndrome Saldino Noonan type

disorder
SNOMED 726032008CUI C0036069

Overview

Short rib polydactyly syndrome Saldino Noonan type 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.

Hook-shaped clavicle
Frequent (30-79%)HP:0000895
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Absent anus
Occasional (5-29%)HP:0002023
Absent shinbone
Occasional (5-29%)HP:0009556
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Cerebellar cysts
Occasional (5-29%)HP:0002350
Cleft of palate
Occasional (5-29%)HP:0000175
Cleft of upper lip
Occasional (5-29%)HP:0000204
Fetal foot inversion
Occasional (5-29%)HP:0001762
Hamartoma of tongue
Occasional (5-29%)HP:0011802
Horizontal ribs
Occasional (5-29%)HP:0000888
Hypoplasia of the ulna
Occasional (5-29%)HP:0003022
Intestinal malrotation
Occasional (5-29%)HP:0002566
Polydactyly, preaxial
Occasional (5-29%)HP:0100258
Postaxial hexadactyly
Occasional (5-29%)HP:0100259
Short fibula
Occasional (5-29%)HP:0003038
Short penis
Occasional (5-29%)HP:0000054
Snake tongue
Occasional (5-29%)HP:0010297
Acetabular spurs
HP:0010454
Bowed femura
HP:0002980
Brachydactyly
HP:0001156
Cone-shaped epiphyses
HP:0010579
Decreased body height
HP:0004322
Dysplastic kidneys
HP:0000110
Enlarged kidney
HP:0000105
Metaphyseal spurs
HP:0005054
Polycystic kidney dysplasia
HP:0000113
Scoliosis
HP:0002650
Short digit
HP:0011927
Short ribs
HP:0000773

Related Conditions

Micromelia(parent)
Short rib polydactyly syndrome(parent)

Quick Facts

SNOMED CT
726032008
UMLS CUI
C0036069
Fully Specified Name
Short rib polydactyly syndrome type I (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.