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.

Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome — Symptoms, Testing & Specialists | Ltrl | Healos