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Oculoectodermal syndrome

disorder
SNOMED 723554006CUI C1838329

Overview

Oculoectodermal 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.

Congenital scars
Always present (100%)HP:0001057
Hyperpigmented streaks
Always present (100%)HP:0007572
Preauricular skin tags
Always present (100%)HP:0000384
Abnormal conjunctiva morphology
Very frequent (80-99%)HP:0000502
Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Absence of the septum pellucidum
Very frequent (80-99%)HP:0001331
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Epibulbar dermoid
Very frequent (80-99%)HP:0001140
Generalised hyperpigmentation
Very frequent (80-99%)HP:0007440
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the cardiovascular system
Frequent (30-79%)HP:0001626
Abnormality of the ureter
Frequent (30-79%)HP:0000069
Aganglionic megacolon
Frequent (30-79%)HP:0002251
Atria septal defect
Frequent (30-79%)HP:0001631
Blepharophimosis
Frequent (30-79%)HP:0000581
Brachydactyly
Frequent (30-79%)HP:0001156
Chorioretinal atrophy
Frequent (30-79%)HP:0000533
Ear anomaly
Frequent (30-79%)HP:0000598
Feeding difficulties
Frequent (30-79%)HP:0011968
Giant cell granuloma of mandible
Frequent (30-79%)HP:0100955
Hydramnios
Frequent (30-79%)HP:0001561
Hypoacusis
Frequent (30-79%)HP:0000365
Hypoplastic larynx
Frequent (30-79%)HP:0008749
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Large head
Frequent (30-79%)HP:0000256
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nostrils anteverted
Frequent (30-79%)HP:0000463
Palpebronasal fold
Frequent (30-79%)HP:0000286

Related Conditions

Autosomal hereditary disorder(parent)
Aplasia cutis congenita(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of the visual system(parent)
Dermoid cyst of eye proper(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
723554006
UMLS CUI
C1838329
Fully Specified Name
Aplasia cutis congenita with epibulbar dermoid syndrome (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.