Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

disorder

SNOMED 234633000CUI C0398788

Overview

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 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.

Nasal hypoplasia

Always present (100%)HP:0003196

Abnormality of chromosome stability

Very frequent (80-99%)HP:0003220

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased circulating immunoglobulin concentration

Very frequent (80-99%)HP:0004313

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Immune deficiency

Very frequent (80-99%)HP:0002721

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Abnormality of neutrophils

Frequent (30-79%)HP:0001874

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Cellular immunodeficiency

Frequent (30-79%)HP:0005374

Communicating hydrocephalus

Frequent (30-79%)HP:0001334

Concave bridge of nose

Frequent (30-79%)HP:0005280

Increased size of skull

Frequent (30-79%)HP:0000256

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Low number of red blood cells or haemoglobin

Frequent (30-79%)HP:0001903

Mental and motor retardation

Frequent (30-79%)HP:0001263

Flat facial shape

Occasional (5-29%)HP:0012368

Increased distance between eyes

Occasional (5-29%)HP:0000316

Lingual hyperplasia

Occasional (5-29%)HP:0000158

Low-set ears

Occasional (5-29%)HP:0000369

Palpebronasal fold

Occasional (5-29%)HP:0000286

Umbilical hernia

Occasional (5-29%)HP:0001537

Bronchiectasis

HP:0002110

Chronic bronchitis

HP:0004469

Diarrhea

HP:0002014

Increased IgM levels

HP:0003496

Lingual protrusion

HP:0010808

Low levels of immunoglobulin A

HP:0002720

Mental-retardation

HP:0001249

Nostrils anteverted

HP:0000463

Related Conditions

Immunodeficiency associated with chromosomal abnormality(parent)

Disorder of immune structure(parent)

Quick Facts

SNOMED CT: 234633000
UMLS CUI: C0398788
Fully Specified Name: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.