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

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

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

Poor school performance

Frequent (30-79%)HP:0001249

Premature birth

Frequent (30-79%)HP:0001622

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

Cleft of palate

Occasional (5-29%)HP:0000175

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

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

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Nostrils anteverted

Occasional (5-29%)HP:0000463

Oral cleft

Occasional (5-29%)HP:0000202

Panhypopituitarism

Occasional (5-29%)HP:0000871

Reactive airway disease

Occasional (5-29%)HP:0002099

Related Conditions

Holoprosencephaly sequence(parent)

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.