Microcephaly, normal intelligence and immunodeficiency

disorder

SNOMED 234638009CUI C0398791

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypoplastic mandible

Always present (100%)HP:0000347

Abnormal hair morphology

Very frequent (80-99%)HP:0001595

Abnormal hair quantity

Very frequent (80-99%)HP:0011362

Abnormality of chromosome stability

Very frequent (80-99%)HP:0003220

Anal atresia

Very frequent (80-99%)HP:0002023

Anorectal anomaly

Very frequent (80-99%)HP:0012732

Autoimmune haemolytic anemia

Very frequent (80-99%)HP:0001890

Cachexia

Very frequent (80-99%)HP:0004326

Childhood attention deficit/hyperactivity disorder

Very frequent (80-99%)HP:0007018

Chronic diarrhoea

Very frequent (80-99%)HP:0002028

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Depressed philtrum

Very frequent (80-99%)HP:0002002

Disorder of face

Very frequent (80-99%)HP:0000271

Hearing abnormality

Very frequent (80-99%)HP:0000364

Hemolytic anaemia

Very frequent (80-99%)HP:0001878

Hooked nose

Very frequent (80-99%)HP:0000444

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Large nose

Very frequent (80-99%)HP:0000448

Large pinnae

Very frequent (80-99%)HP:0000400

Low anterior hairline

Very frequent (80-99%)HP:0000294

Mongoloid slant

Very frequent (80-99%)HP:0000582

Narrowing of anal opening

Very frequent (80-99%)HP:0002025

Prominent nasal root

Very frequent (80-99%)HP:0000426

pulmonary infections, recurrent

Very frequent (80-99%)HP:0006532

Recurrent sinopulmonary infections

Very frequent (80-99%)HP:0005425

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Retrognathia

Very frequent (80-99%)HP:0000278

Short neck

Very frequent (80-99%)HP:0000470

Related Conditions

Immunodeficiency associated with chromosomal abnormality(parent)

Disorder of immune structure(parent)

Hereditary disorder of immune system(parent)

Hereditary neoplastic syndrome(parent)

Quick Facts

SNOMED CT: 234638009
UMLS CUI: C0398791
Fully Specified Name: Microcephaly, normal intelligence 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.