Chondrodysplasia with disorder of sex development syndrome

disorder

SNOMED 720851007CUI C1838654

Overview

Chondrodysplasia with disorder of sex development 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.

Bell-shaped chest

Always present (100%)HP:0001591

Distal clavicular thinning

Always present (100%)HP:0025681

Elevated serum creatine phosphokinase

Always present (100%)HP:0003236

Mongoloid slant

Always present (100%)HP:0000582

Optic disc coloboma

Always present (100%)HP:0000588

Abnormality of pelvic girdle bone morphology

Very frequent (80-99%)HP:0002644

Abnormality of the shoulder

Very frequent (80-99%)HP:0003043

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Increased calcification of skull

Very frequent (80-99%)HP:0004330

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Large ears

Very frequent (80-99%)HP:0000400

Low chest circumference

Very frequent (80-99%)HP:0000774

Micromelia

Very frequent (80-99%)HP:0002983

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Phalangeal hypoplasia

Very frequent (80-99%)HP:0009803

Short stature, severe

Very frequent (80-99%)HP:0003510

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Widened long bones

Very frequent (80-99%)HP:0005622

Blepharophimosis

Frequent (30-79%)HP:0000581

Brachydactyly

Frequent (30-79%)HP:0001156

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Coloboma of choroid

Frequent (30-79%)HP:0000567

Deep set eye

Frequent (30-79%)HP:0000490

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Focal seizures

Frequent (30-79%)HP:0007359

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Iris hypoplasia

Frequent (30-79%)HP:0007676

Male pseudohermaphroditism

Frequent (30-79%)HP:0000037

Miosis

Frequent (30-79%)HP:0000616

Related Conditions

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Pure gonadal dysgenesis 46,XY(parent)

Chondrodysplasia(parent)

Small stature(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720851007
UMLS CUI: C1838654
Fully Specified Name: Chondrodysplasia with disorder of sex development syndrome (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.