Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acute kidney injury
Always present (100%)HP:0001919
Aplasia of the middle phalanx of the 2nd finger
Always present (100%)HP:0009576
Aplasia of the middle phalanx of the 5th finger
Always present (100%)HP:0009162
Breakdown of light-sensitive cells in back of eye
Always present (100%)HP:0000556
Broad flat nasal bridge
Always present (100%)HP:0000431
Cholangitis
Always present (100%)HP:0030151
Clinodactyly of the 2nd finger
Always present (100%)HP:0040022
Cone-shaped epiphyses of the fingers
Always present (100%)HP:0010230
Congenital hepatic fibrosis
Always present (100%)HP:0002612
Curvature of little finger
Always present (100%)HP:0004209
Delay in head control
Always present (100%)HP:0002421
Depressed nasal root/bridge
Always present (100%)HP:0005280
Dilated cerebral ventricle
Always present (100%)HP:0002119
End-stage renal disease
Always present (100%)HP:0003774
Epilepsy
Always present (100%)HP:0001250
Extra oral frenum
Always present (100%)HP:0000191
Flat philtrum
Always present (100%)HP:0000319
Frontal protuberance
Always present (100%)HP:0002007
Head lag
Always present (100%)HP:0032988
Hepatosplenomegaly
Always present (100%)HP:0001433
High arched palate
Always present (100%)HP:0000218
High blood pressure
Always present (100%)HP:0000822
High forehead
Always present (100%)HP:0000348
Hyperplasia of cheeks
Always present (100%)HP:0000293
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Hypoplastic mandible
Always present (100%)HP:0000347
Increased distance between eyes
Always present (100%)HP:0000316
Large mouth
Always present (100%)HP:0000154
Lingual hyperplasia
Always present (100%)HP:0000158
Loose skin
Always present (100%)HP:0000973
Related Conditions
Renal dysplasia(parent)
Congenital anomaly of retina(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the visual system(parent)
Hereditary nephropathy(parent)
Cerebellar ataxia(parent)
Hereditary ataxia(parent)
Congenital anomaly of skeletal bone(parent)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Retinal pigment epithelial dystrophy(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 254092004
- UMLS CUI
- C1849437
- Fully Specified Name
- Saldino-Mainzer 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.