Spondyloepimetaphyseal dysplasia Shohat type

disorder

SNOMED 719201004CUI C1865185

Overview

Spondyloepimetaphyseal dysplasia Shohat 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.

Dwarfism, short-limbed

Always present (100%)HP:0008873

Anomaly of the epiphyses

Frequent (30-79%)HP:0005930

Arthritic pain

Frequent (30-79%)HP:0002829

Central vertebral hypoplasia

Frequent (30-79%)HP:0008463

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Generalised bone demineralization

Frequent (30-79%)HP:0006462

Multiple vertebral anomalies

Frequent (30-79%)HP:0003468

Premature osteoarthritis

Frequent (30-79%)HP:0003088

Short stature, severe

Frequent (30-79%)HP:0003510

Short stature, severe disproportionate

Frequent (30-79%)HP:0003498

shortened long tubular bones

Frequent (30-79%)HP:0003026

Splayed metaphyses

Frequent (30-79%)HP:0003015

Thoracic hypoplasia

Frequent (30-79%)HP:0005257

Widened metaphyses

Frequent (30-79%)HP:0003016

Abnormality of the bronchi

Occasional (5-29%)HP:0025426

Belly bloating

Occasional (5-29%)HP:0003270

Bowed lower limbs

Occasional (5-29%)HP:0002979

Delayed maturation of end part of long bone

Occasional (5-29%)HP:0002663

Genua vara

Occasional (5-29%)HP:0002970

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

Husky voice

Occasional (5-29%)HP:0001609

Irregular metaphyses

Occasional (5-29%)HP:0003025

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Laryngeal stenosis

Occasional (5-29%)HP:0001602

Narrowing of interpediculate distances

Occasional (5-29%)HP:0008450

Narrowing of windpipe

Occasional (5-29%)HP:0002777

Overgrowth of calf bone

Occasional (5-29%)HP:0003099

Prominent swayback

Occasional (5-29%)HP:0003307

Short limbs

Occasional (5-29%)HP:0009826

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Spondyloepimetaphyseal disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719201004
UMLS CUI: C1865185
Fully Specified Name: Spondyloepimetaphyseal dysplasia Shohat 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.