Chondrodysplasia punctata, Conradi-Hünermann type

disorder

SNOMED 398719004CUI C0282102

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Dermatopathy

Very frequent (80-99%)HP:0000951

Stippling of the epiphyses

Very frequent (80-99%)HP:0010655

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Abnormally ossified vertebrae

Frequent (30-79%)HP:0100569

Anomalous tracheal cartilage

Frequent (30-79%)HP:0004468

Anterior rib punctate calcifications

Frequent (30-79%)HP:0006619

Decreased body height

Frequent (30-79%)HP:0004322

Erythematous plaque

Frequent (30-79%)HP:0025474

Erythroderma

Frequent (30-79%)HP:0001019

Flat nasal bridge

Frequent (30-79%)HP:0005280

Frontal protuberance

Frequent (30-79%)HP:0002007

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Left and right leg differ in length or width

Frequent (30-79%)HP:0100559

Lens opacities

Frequent (30-79%)HP:0000518

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Scaling skin

Frequent (30-79%)HP:0040189

Scoliosis

Frequent (30-79%)HP:0002650

Unbalanced face

Frequent (30-79%)HP:0000324

Unequal size of arms

Frequent (30-79%)HP:0100560

Abnormal distribution of hair

Occasional (5-29%)HP:0010720

Abnormality of prenatal development or birth

Occasional (5-29%)HP:0001197

Abnormality of the lungs

Occasional (5-29%)HP:0002088

Alopecia areata

Occasional (5-29%)HP:0002232

Bilateral clubfeet

Occasional (5-29%)HP:0001776

Congenital lamellar ichthyosis

Occasional (5-29%)HP:0007479

Dandy-Walker cyst

Occasional (5-29%)HP:0001305

Deafness

Occasional (5-29%)HP:0000365

Decreased corneal diameter

Occasional (5-29%)HP:0000482

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Related Conditions

Chondrodysplasia punctata(parent)

Quick Facts

SNOMED CT: 398719004
UMLS CUI: C0282102
Fully Specified Name: Chondrodysplasia punctata, Conradi-Hünermann type (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.