Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

disorder

SNOMED 721089006CUI C4303592

Overview

Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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.

Cone-shaped epiphyses

Very frequent (80-99%)HP:0010579

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Dentinogenesis imperfecta

Very frequent (80-99%)HP:0000703

Distortion of face

Very frequent (80-99%)HP:0001999

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Osteoporosis

Very frequent (80-99%)HP:0000939

Prominent nasal root

Very frequent (80-99%)HP:0000426

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Related Conditions

Sensorineural hearing loss(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Dentinogenesis imperfecta(parent)

Hearing loss associated with syndrome(parent)

Small stature(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721089006
UMLS CUI: C4303592
Fully Specified Name: Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.