Overview
Spondylometaphyseal dysplasia Schmidt 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.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormality of the backbone
Very frequent (80-99%)HP:0000925
Abnormality of the epiphysis of the femoral head
Frequent (30-79%)HP:0010574
Abnormality of the knee
Frequent (30-79%)HP:0002815
Coxa vara
Frequent (30-79%)HP:0002812
Developmental dysplasia of the hip
Frequent (30-79%)HP:0001385
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Iliac abnormalities
Frequent (30-79%)HP:0002867
Narrow sciatic notches
Frequent (30-79%)HP:0003375
Scoliosis
Frequent (30-79%)HP:0002650
Short iliac bones
Frequent (30-79%)HP:0100866
Short stature, severe
Frequent (30-79%)HP:0003510
Short-trunked dwarfism
Frequent (30-79%)HP:0003521
Abnormality of the wrist
Occasional (5-29%)HP:0003019
Cleft soft palate
Occasional (5-29%)HP:0000185
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
Hydramnios
Occasional (5-29%)HP:0001561
Hypoplastic femoral neck
Occasional (5-29%)HP:0100864
Hypoplastic mandible
Occasional (5-29%)HP:0000347
Irregular acetabular roof
Occasional (5-29%)HP:0008833
Irregular iliac crest
Occasional (5-29%)HP:0003796
Narrow ear canal
Occasional (5-29%)HP:0000402
Nasogastric tube feeding in infancy
Occasional (5-29%)HP:0011470
Near sighted
Occasional (5-29%)HP:0000545
PEG-fed in infancy
Occasional (5-29%)HP:0011471
Poor sucking
Occasional (5-29%)HP:0002033
shortened long tubular bones
Occasional (5-29%)HP:0003026
Anteriorly splayed ribs
HP:0000907
Flared metaphysis of thigh bone
HP:0002834
Genu valga
HP:0002857
Quick Facts
- SNOMED CT
- 719304005
- UMLS CUI
- C1866688
- Fully Specified Name
- Spondylometaphyseal dysplasia Schmidt type (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.