Microcephalic osteodysplastic primordial dwarfism types I and III

disorder

SNOMED 725461009CUI C4319565

Overview

Microcephalic osteodysplastic primordial dwarfism types I and III 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.

Abnormal Ca2+ PO4 regulating hormone level

Very frequent (80-99%)HP:0100530

Abnormal distal phalanx morphology of finger

Very frequent (80-99%)HP:0009832

Abnormal metacarpal morphology

Very frequent (80-99%)HP:0005916

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormal pubic bone morphology

Very frequent (80-99%)HP:0003172

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormalities of the fingers

Very frequent (80-99%)HP:0001167

Abnormality of the intervertebral disc

Very frequent (80-99%)HP:0005108

Abnormality of the upper urinary tract

Very frequent (80-99%)HP:0010935

Abnormality of the urinary system

Very frequent (80-99%)HP:0000079

Abnormally ossified vertebrae

Very frequent (80-99%)HP:0100569

Absent/small thighbone

Very frequent (80-99%)HP:0005613

Anterior bulging of the globe of eye

Very frequent (80-99%)HP:0000520

Aplastic clavicle

Very frequent (80-99%)HP:0006660

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Brachydactyly

Very frequent (80-99%)HP:0001156

Broad distal phalanx of finger

Very frequent (80-99%)HP:0009836

Bulbous nasal tip

Very frequent (80-99%)HP:0000414

Ciliary Madarosis

Very frequent (80-99%)HP:0011457

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Difficulty breathing

Very frequent (80-99%)HP:0002094

Disproportionately large hands

Very frequent (80-99%)HP:0001176

Epilepsy

Very frequent (80-99%)HP:0001250

Generalized non-motor (absence) seizure

Very frequent (80-99%)HP:0002121

Glaucoma

Very frequent (80-99%)HP:0000501

Hair loss

Very frequent (80-99%)HP:0001596

Hydronephrosis

Very frequent (80-99%)HP:0000126

Hypertonia

Very frequent (80-99%)HP:0001276

Increased nasal height

Very frequent (80-99%)HP:0003189

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Osteodysplastic primordial dwarfism(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 725461009
UMLS CUI: C4319565
Fully Specified Name: Microcephalic osteodysplastic primordial dwarfism types I and III (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.