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Holoprosencephaly minor form

disorder
SNOMED 1197215004CUI C5393309

Overview

Holoprosencephaly minor form 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.

Choanal atresia
Very frequent (80-99%)HP:0000453
Midnasal atresia or stenosis
Very frequent (80-99%)HP:0010644
Single median incisor
Very frequent (80-99%)HP:0006315
Decreased body height
Frequent (30-79%)HP:0004322
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dull intelligence
Frequent (30-79%)HP:0001249
Inverted V-shaped upper lip
Frequent (30-79%)HP:0010804
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Pinched bridge of nose
Frequent (30-79%)HP:0000446
Premature birth
Frequent (30-79%)HP:0001622
Small for gestational age infant
Frequent (30-79%)HP:0001511
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Bronchial asthma
Occasional (5-29%)HP:0002099
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Cleft of palate
Occasional (5-29%)HP:0000175
Cyclopia
Occasional (5-29%)HP:0009914
Duodenal atresia
Occasional (5-29%)HP:0002247
EMG: myopathic changes
Occasional (5-29%)HP:0003458
Epilepsy
Occasional (5-29%)HP:0001250
Hemangiomata
Occasional (5-29%)HP:0001028
Hypoplasia of penis
Occasional (5-29%)HP:0008736
Hypothyroidism
Occasional (5-29%)HP:0000821
Iris coloboma
Occasional (5-29%)HP:0000612
Nostrils anteverted
Occasional (5-29%)HP:0000463
Panhypopituitarism
Occasional (5-29%)HP:0000871
Renal aplasia
Occasional (5-29%)HP:0000104
Scoliosis
Occasional (5-29%)HP:0002650

Quick Facts

SNOMED CT
1197215004
UMLS CUI
C5393309
Fully Specified Name
Microform holoprosencephaly (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.