Rhizomelic chondrodysplasia punctata type 1

disorder

SNOMED 1003862001CUI C1859133

Overview

Rhizomelic chondrodysplasia punctata type 1 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.

Calcific stippling of infantile cartilaginous skeleton

HP:0005841

Cerebral cortex atrophy

HP:0002120

Cleft of palate

HP:0000175

Concave bridge of nose

HP:0005280

Congenital cataracts, bilateral

HP:0000519

coronal cleft of vertebrae

HP:0003417

Decreased projection of mandible

HP:0000347

Decreased size of cranium

HP:0000252

Delayed CNS myelination

HP:0002188

Dull intelligence

HP:0001249

Elevated circulating phytanic acid concentration

HP:0010571

Flat facial shape

HP:0012368

Flexion contractures

HP:0001371

Frontal protuberance

HP:0002007

Hair loss

HP:0001596

Hypotrophic malar bone

HP:0000272

Ichthyosiform abnormality of the skin

HP:0008064

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Kyphoscoliosis

HP:0002751

Mongoloid slant

HP:0000582

Respiratory function loss

HP:0002093

Rhizomelic limb shortening

HP:0008905

Seizures

HP:0001250

Sensorineural deafness

HP:0000407

Severe weight faltering

HP:0001525

Short stature, severe

HP:0003510

Splayed metaphyses

HP:0003015

Stippling of the epiphyses

HP:0010655

Related Conditions

Rhizomelic chondrodysplasia punctata syndrome(parent)

Quick Facts

SNOMED CT: 1003862001
UMLS CUI: C1859133
Fully Specified Name: Rhizomelic chondrodysplasia punctata type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.