Distal deletion of long arm of chromosome 12

disorder

SNOMED 897564008CUI C5438460

Overview

Distal deletion of long arm of chromosome 12 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.

Annular pancreas

Occasional (5-29%)HP:0001734

Aplasia/Hypoplasia of the middle phalanx of the 3rd finger

Occasional (5-29%)HP:0009437

Atresia of bile ducts

Occasional (5-29%)HP:0005912

Bilateral conductive hearing loss

Occasional (5-29%)HP:0008513

Broad big toe

Occasional (5-29%)HP:0010055

Bronchodysplasia

Occasional (5-29%)HP:0006533

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Coarse face

Occasional (5-29%)HP:0000280

Congenital hypertrophy of left ventricle

Occasional (5-29%)HP:0005129

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased size of tongue

Occasional (5-29%)HP:0000171

Deformity of face

Occasional (5-29%)HP:0001999

Delayed gross motor development

Occasional (5-29%)HP:0002194

Diabetes mellitus

Occasional (5-29%)HP:0000819

Disproportionately large hands

Occasional (5-29%)HP:0001176

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Duodenal atresia

Occasional (5-29%)HP:0002247

Ectopic kidney

Occasional (5-29%)HP:0000086

Esophageal atresia

Occasional (5-29%)HP:0002032

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Fine hair

Occasional (5-29%)HP:0002213

Fixed flexion at the elbow joint

Occasional (5-29%)HP:0002987

Flat facial shape

Occasional (5-29%)HP:0012368

Flat philtrum

Occasional (5-29%)HP:0000319

Frontal protuberance

Occasional (5-29%)HP:0002007

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Generalised tonic seizures

Occasional (5-29%)HP:0010818

Growth failure

Occasional (5-29%)HP:0001510

High-grade hypermetropia

Occasional (5-29%)HP:0008499

Related Conditions

Deletion of part of long arm of chromosome 12(parent)

Quick Facts

SNOMED CT: 897564008
UMLS CUI: C5438460
Fully Specified Name: Distal deletion of long arm of chromosome 12 (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.