Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome

disorder

SNOMED 716195006CUI C1832594

Overview

Autosomal recessive brachyolmia and amelogenesis imperfecta 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.

Decreased body height

Always present (100%)HP:0004322

Partial anodontia

Always present (100%)HP:0000677

Decreased projection of maxilla

Occasional (5-29%)HP:0000327

Mandibular excess

Occasional (5-29%)HP:0000303

Amelogenesis imperfecta

HP:0000705

Decreased width of tooth

HP:0000691

Delayed skeletal development

HP:0002750

Flattened vertebral bodies

HP:0000926

Herniation of intervertebral nuclei

HP:0008441

Hypertrichosis

HP:0000998

Mitral valve prolapse

HP:0001634

Narrow intervertebral disc spaces

HP:0002945

Narrowing of interpediculate distances

HP:0008450

Scoliosis

HP:0002650

Wide-spaced teeth

HP:0000687

Related Conditions

Amelogenesis imperfecta(parent)

Recessive hereditary disorder (autosomal)(parent)

Brachyolmia(parent)

Quick Facts

SNOMED CT: 716195006
UMLS CUI: C1832594
Fully Specified Name: Autosomal recessive brachyolmia and amelogenesis imperfecta 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.