Spondyloepimetaphyseal dysplasia with joint laxity type 3

disorder

SNOMED 1286834000CUI C5193073

Overview

Spondyloepimetaphyseal dysplasia with joint laxity type 3 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.

Delayed ability to walk

Always present (100%)HP:0031936

Delayed ossification of carpal bones

Always present (100%)HP:0001216

Dislocated femoral heads

Always present (100%)HP:0002827

Dislocated patellae

Always present (100%)HP:0002999

Dislocations of the knees

Always present (100%)HP:0004976

Hypoplastic carpal bones

Always present (100%)HP:0001498

Joint ligamentous laxity

Always present (100%)HP:0001382

Narrowing of interpediculate distances

Always present (100%)HP:0008450

Radial head dislocation

Always present (100%)HP:0003083

Scoliosis

Always present (100%)HP:0002650

vertebral endplate irregularity

Always present (100%)HP:0003301

Obesity

Very rare (1-4%)HP:0001513

Decreased body height

HP:0004322

Dropped arches

HP:0001763

Flattened vertebral bodies

HP:0000926

Hypoplasia of the ulna

HP:0003022

Hypoplastic femoral neck

HP:0100864

Irregular metaphyses

HP:0003025

Multiple joint dislocation

HP:0012095

Narrow skull shape

HP:0000268

Short neck

HP:0000470

Slender ribs

HP:0000883

Spondyloepimetaphyseal dysplasia

HP:0002651

Tapering fingers

HP:0001182

Related Conditions

Congenital anomaly of bone and joint(parent)

Spondyloepimetaphyseal disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic arthropathy(parent)

Polyarthropathy associated with another disorder(parent)

Movement disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital dislocation of joint(parent)

Scoliosis in skeletal dysplasia(parent)

Quick Facts

SNOMED CT: 1286834000
UMLS CUI: C5193073
Fully Specified Name: Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.