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Pelger-Huët anomaly

disorder
SNOMED 85559002CUI C0030779

Overview

Pelger-Huët anomaly 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.

Abnormality of neutrophils
Always present (100%)HP:0001874
Central cleft palate
Always present (100%)HP:0009099
Dental anomalies
Always present (100%)HP:0000164
Flat nasal bridge
Always present (100%)HP:0005280
Frontal protuberance
Always present (100%)HP:0002007
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Gingival hyperplasia
Always present (100%)HP:0000212
Inability to heel walk
Always present (100%)HP:0009027
Increased distance between eyes
Always present (100%)HP:0000316
Lower limb hyperreflexia
Always present (100%)HP:0002395
Lower limb hypertonia
Always present (100%)HP:0006895
Pes cavus
Always present (100%)HP:0001761
Recurrent middle ear infection
Always present (100%)HP:0000403
Squint
Always present (100%)HP:0000486
Umbilical hernia
Always present (100%)HP:0001537
Undergrowth
Always present (100%)HP:0001508
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Eczema
Occasional (5-29%)HP:0000964
Epilepsy
Occasional (5-29%)HP:0001250
Giant platelets
Occasional (5-29%)HP:0001902
Hunched back
Occasional (5-29%)HP:0002808
Hypoplasia involving bones of the upper limbs
Occasional (5-29%)HP:0009824
Hypoplastic fourth metacarpal
Occasional (5-29%)HP:0010044
Increased size of skull
Occasional (5-29%)HP:0000256
Neutropoenia
Occasional (5-29%)HP:0001875
Relative short stature
Occasional (5-29%)HP:0003502
Short 5th metacarpal
Occasional (5-29%)HP:0010047
Short third metacarpals
Occasional (5-29%)HP:0010041
Thrombocytopenia
Occasional (5-29%)HP:0001873

Related Conditions

SOPH (short stature, optic nerve atrophy, Pelger-Huët anomaly) syndrome(child)
Genetic anomaly of leukocyte(parent)
Qualitative abnormality of granulocyte(parent)
Non-malignant white cell disorder(parent)

Quick Facts

SNOMED CT
85559002
UMLS CUI
C0030779
Fully Specified Name
Pelger-Huët anomaly (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.