Chondroectodermal dysplasia

disorder

SNOMED 62501005CUI C0013903

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.

Abnormal nail morphology

Very frequent (80-99%)HP:0001597

Abnormal oral mucosa morphology

Very frequent (80-99%)HP:0011830

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Abnormality of the hair shaft

Very frequent (80-99%)HP:0001595

Atrioventricular septal defect

Very frequent (80-99%)HP:0006695

Dental anomalies

Very frequent (80-99%)HP:0000164

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Genu valga

Very frequent (80-99%)HP:0002857

Hypoplastic toenails

Very frequent (80-99%)HP:0001800

Micromelia

Very frequent (80-99%)HP:0002983

Nail dysplasia

Very frequent (80-99%)HP:0002164

Polydactyly of the foot

Very frequent (80-99%)HP:0001829

Polydactyly of the hand

Very frequent (80-99%)HP:0001161

Poor weight gain

Very frequent (80-99%)HP:0001508

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Valvular abnormality

Very frequent (80-99%)HP:0001654

Abnormality of lingual frenum

Frequent (30-79%)HP:0000190

Abnormality of pelvic girdle bone morphology

Frequent (30-79%)HP:0002644

Abnormality of the ureter

Frequent (30-79%)HP:0000069

Absent/small lungs

Frequent (30-79%)HP:0006703

Atria septal defect

Frequent (30-79%)HP:0001631

Cryptorchidism

Frequent (30-79%)HP:0000028

Fusion of hamate and capitate

Frequent (30-79%)HP:0001241

Heart tip and four chambers point towards right side of body

Frequent (30-79%)HP:0001651

Hypospadias

Frequent (30-79%)HP:0000047

Missing between one and six teeth

Frequent (30-79%)HP:0000668

Pointed front tooth

Frequent (30-79%)HP:0011065

Renal anomalies

Frequent (30-79%)HP:0000077

Situs inversus totalis

Frequent (30-79%)HP:0001696

Related Conditions

Chondroectodermal dysplasia with night blindness syndrome(child)

Ectodermal dysplasia with hair-tooth-nail defects(parent)

Osteochondrodysplasia syndrome(parent)

Skeletal dysplasia(parent)

Skin lesion(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 62501005
UMLS CUI: C0013903
Fully Specified Name: Chondroectodermal dysplasia (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.