Primary immunodeficiency syndrome due to p14 deficiency

disorder

SNOMED 718717004CUI C4305256

Overview

Primary immunodeficiency syndrome due to p14 deficiency 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Hypopigmentation of hair

Very frequent (80-99%)HP:0005599

Immune deficiency

Very frequent (80-99%)HP:0002721

Neutropoenia

Very frequent (80-99%)HP:0001875

Partial absent skin pigmentation

Very frequent (80-99%)HP:0007443

Recurrent bronchopneumonia

Very frequent (80-99%)HP:0006538

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Immunodeficiency associated with chromosomal abnormality(parent)

Small stature(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718717004
UMLS CUI: C4305256
Fully Specified Name: Primary immunodeficiency syndrome due to p14 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.