Rhizomelic syndrome Urbach type

disorder

SNOMED 770948004CUI C4749613

Overview

Rhizomelic syndrome Urbach 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 hair quantity

Very frequent (80-99%)HP:0011362

Abnormal humerus morphology

Very frequent (80-99%)HP:0031095

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormality of the elbow

Very frequent (80-99%)HP:0009811

Abnormality of the knee

Very frequent (80-99%)HP:0002815

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Brachydactyly

Very frequent (80-99%)HP:0001156

Breaking out

Very frequent (80-99%)HP:0001061

Cognitive deficits

Very frequent (80-99%)HP:0100543

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dislocated femoral heads

Very frequent (80-99%)HP:0002827

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Glossal abnormality

Very frequent (80-99%)HP:0000157

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Preaxial hand polydactyly

Very frequent (80-99%)HP:0001177

Pulmonary stenosis

Very frequent (80-99%)HP:0001642

Rhizomelic limb shortening

Very frequent (80-99%)HP:0008905

Short neck

Very frequent (80-99%)HP:0000470

Triphalangy of thumb

Very frequent (80-99%)HP:0001199

Wider-than-typical soft spot of skull

Very frequent (80-99%)HP:0000260

Cleft of palate

Frequent (30-79%)HP:0000175

High arched palate

Frequent (30-79%)HP:0000218

Hunched back

Frequent (30-79%)HP:0002808

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Rhizomelic dysplasia(parent)

Congenital anomaly of upper limb(parent)

Abnormal upper limb bone morphology(parent)

Quick Facts

SNOMED CT: 770948004
UMLS CUI: C4749613
Fully Specified Name: Rhizomelic syndrome Urbach type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.