Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type

disorder

SNOMED 719172003CUI C2748516

Overview

Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type 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.

Acne

HP:0001061

Bowed lower limbs

HP:0002979

Brachydactyly

HP:0001156

Decreased body height

HP:0004322

Flattened vertebral bodies

HP:0000926

Hirsutism

HP:0001007

Hypoplasia involving bones of the lower limbs

HP:0009816

Kyphoscoliosis

HP:0002751

Lumbar scoliosis

HP:0004626

Premature pubarche

HP:0012411

Previous menstrual periods stop

HP:0000869

Spondyloepimetaphyseal dysplasia

HP:0002651

vertebral endplate irregularity

HP:0003301

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Spondyloepimetaphyseal disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719172003
UMLS CUI: C2748516
Fully Specified Name: Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.