XK aprosencephaly syndrome

disorder

SNOMED 1162839003CUI C0795952

Overview

XK aprosencephaly 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.

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Narrow mouth

Very frequent (80-99%)HP:0000160

Abnormal external genitalia morphology

Frequent (30-79%)HP:0000811

Abnormal morphology of the radius

Frequent (30-79%)HP:0002818

Abnormality of the pharynx

Frequent (30-79%)HP:0000600

Anal atresia

Frequent (30-79%)HP:0002023

Deformity of the nostrils

Frequent (30-79%)HP:0005288

Atria septal defect

Occasional (5-29%)HP:0001631

Increased amniotic fluid index

Occasional (5-29%)HP:0001561

Ocular hypotelorism

Occasional (5-29%)HP:0000601

VSD

Occasional (5-29%)HP:0001629

Absent fingers

HP:0009380

Aprosencephaly

HP:0007268

Fetal anencephaly

HP:0002323

Related Conditions

Aprosencephaly(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1162839003
UMLS CUI: C0795952
Fully Specified Name: XK aprosencephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.