Xeroderma pigmentosum and Cockayne syndrome complex

disorder

SNOMED 719819004CUI C4304411

Overview

Xeroderma pigmentosum and Cockayne syndrome complex 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.

Amino acid levels abnormal

Very frequent (80-99%)HP:0004337

Ataxia

Very frequent (80-99%)HP:0001251

Cachexia

Very frequent (80-99%)HP:0004326

Cutaneous photosensitivity

Very frequent (80-99%)HP:0000992

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Hardened artery wall

Very frequent (80-99%)HP:0002634

Hearing impairment

Very frequent (80-99%)HP:0000365

Hives

Very frequent (80-99%)HP:0001025

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Numerous pigmented freckles

Very frequent (80-99%)HP:0007587

Optic atrophy

Very frequent (80-99%)HP:0000648

Poikiloderma

Very frequent (80-99%)HP:0001029

Prematurely aged appearance

Very frequent (80-99%)HP:0007495

Skin degeneration

Very frequent (80-99%)HP:0004334

Skin rash

Very frequent (80-99%)HP:0000988

Xerosis

Very frequent (80-99%)HP:0000958

Basal cell nevus

Frequent (30-79%)HP:0002671

Cognitive delay

Frequent (30-79%)HP:0001263

Confusion

Frequent (30-79%)HP:0001289

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Double vision

Frequent (30-79%)HP:0000651

Skin cancer (melanoma)

Frequent (30-79%)HP:0002861

Squamous skin carcinoma

Frequent (30-79%)HP:0006739

Related Conditions

Cockayne syndrome(parent)

Xeroderma pigmentosum(parent)

Quick Facts

SNOMED CT: 719819004
UMLS CUI: C4304411
Fully Specified Name: Xeroderma pigmentosum and Cockayne syndrome complex (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.