Rhizomelic dysplasia of Patterson Lowry type

disorder

SNOMED 715505002CUI C1832359

Overview

Rhizomelic dysplasia of Patterson Lowry 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 vertebral bodies

Very frequent (80-99%)HP:0003312

Brachydactyly

Very frequent (80-99%)HP:0001156

Coxa vara

Very frequent (80-99%)HP:0002812

Deformed head of long bone in upper arm

Very frequent (80-99%)HP:0005687

Finger pointing in a different direction than usual

Very frequent (80-99%)HP:0004097

Flat facial shape

Very frequent (80-99%)HP:0012368

Genu valga

Very frequent (80-99%)HP:0002857

Humeral hypoplasia

Very frequent (80-99%)HP:0005792

Increased nasal width

Very frequent (80-99%)HP:0000445

Large facies

Very frequent (80-99%)HP:0100729

Mandibular excess

Very frequent (80-99%)HP:0000303

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Prominent swayback

Very frequent (80-99%)HP:0003307

Retruded nasal dorsum

Very frequent (80-99%)HP:0000457

Rhizomelic limb shortening

Very frequent (80-99%)HP:0008905

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

Flattened vertebral bodies

HP:0000926

Short long bone of foot

HP:0010743

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Rhizomelic dysplasia(parent)

Small stature(parent)

Congenital anomaly of upper limb(parent)

Genetic disease(parent)

Abnormal upper limb bone morphology(parent)

Quick Facts

SNOMED CT: 715505002
UMLS CUI: C1832359
Fully Specified Name: Rhizomelic dysplasia of Patterson Lowry type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.