Immunodeficiency, short limb dwarfism syndrome

disorder

SNOMED 789777007CUI C1860168

Overview

Immunodeficiency, short limb dwarfism 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.

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Absolute lymphocyte count decrease

Very frequent (80-99%)HP:0001888

Cellular immunodeficiency

Very frequent (80-99%)HP:0005374

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Severe combined immunodeficiency

Very frequent (80-99%)HP:0004430

Biparietal narrowing

Frequent (30-79%)HP:0004422

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Fine hair

Frequent (30-79%)HP:0002213

Abnormality of the pancreas

Occasional (5-29%)HP:0001732

Aganglionic megacolon

Occasional (5-29%)HP:0002251

Inguinal hernia

Occasional (5-29%)HP:0000023

Intellectual impairment

Occasional (5-29%)HP:0100543

Intestinal malabsorption

Occasional (5-29%)HP:0002024

Long fibula

Occasional (5-29%)HP:0003085

Low number of red blood cells or hemoglobin

Occasional (5-29%)HP:0001903

Pectus excavatum

Occasional (5-29%)HP:0000767

White hair

Occasional (5-29%)HP:0011364

Abnormality of the chest

HP:0000765

Agammaglobulinaemia

HP:0004432

Metaphyseal chondrodysplasia

HP:0005871

Thymic hypoplasia

HP:0000778

Related Conditions

Autosomal recessive severe combined immunodeficiency disease(parent)

Severe combined immunodeficiency with low T- and B-cell numbers(parent)

Hereditary disorder of musculoskeletal system(parent)

Skeletal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

Developmental hereditary disorder(parent)

Abnormality of metaphysis morphology(parent)

Quick Facts

SNOMED CT: 789777007
UMLS CUI: C1860168
Fully Specified Name: Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.