Parana hard skin syndrome

disorder

SNOMED 783013001CUI C1850079

Overview

Parana hard skin syndrome 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.

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Pachydermia

Very frequent (80-99%)HP:0001072

Restricted chest movement

Very frequent (80-99%)HP:0006596

Very poor growth

Very frequent (80-99%)HP:0001510

Respiratory function loss

Frequent (30-79%)HP:0002093

Tapering fingers

Frequent (30-79%)HP:0001182

Decreased body height

Occasional (5-29%)HP:0004322

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Generalized hirsutism

Occasional (5-29%)HP:0002230

Pectus carinatum

Occasional (5-29%)HP:0000768

Round, full face

Occasional (5-29%)HP:0000311

Wide-spaced nipples

Occasional (5-29%)HP:0006610

Abnormality of the abdomen

HP:0001438

Dermatopathy

HP:0000951

Marked growth retardation

HP:0008850

Related Conditions

Thickening of skin(parent)

Recessive hereditary disorder (autosomal)(parent)

Chronic skin disease(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of musculoskeletal system(parent)

Chronic arthropathy(parent)

Quick Facts

SNOMED CT: 783013001
UMLS CUI: C1850079
Fully Specified Name: Parana hard skin syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.