Agnathia, holoprosencephaly, situs inversus syndrome

disorder

SNOMED 722283003CUI C4302678

Overview

Agnathia, holoprosencephaly, situs inversus syndrome 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 the cranial nerves

Very frequent (80-99%)HP:0001291

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Absent nares

Very frequent (80-99%)HP:0100596

Agnathia

Very frequent (80-99%)HP:0009939

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Cyclopia

Very frequent (80-99%)HP:0009914

Decreased size of tongue

Very frequent (80-99%)HP:0000171

Eye disease

Very frequent (80-99%)HP:0000478

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Hypoplasia of the nose

Very frequent (80-99%)HP:0009924

Hypotrophic eyebrow

Very frequent (80-99%)HP:0100840

Increased amniotic fluid index

Very frequent (80-99%)HP:0001561

Laboured breathing

Very frequent (80-99%)HP:0002098

Narrow internal auditory canal

Very frequent (80-99%)HP:0011386

Narrow mouth

Very frequent (80-99%)HP:0000160

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Single brain ventricle

Very frequent (80-99%)HP:0001360

Situs inversus totalis

Very frequent (80-99%)HP:0001696

Synotia

Very frequent (80-99%)HP:0100663

Related Conditions

Holoprosencephaly sequence(parent)

Congenital micrognathism(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722283003
UMLS CUI: C4302678
Fully Specified Name: Agnathia, holoprosencephaly, situs inversus syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.