Coloboma of macula with brachydactyly type B syndrome

disorder

SNOMED 717785002CUI C1852752

Overview

Coloboma of macula with brachydactyly type B 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.

Coloboma of choroid

Very frequent (80-99%)HP:0000567

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Type B brachydactyly

Very frequent (80-99%)HP:0005831

Anonychia of fingernails

Frequent (30-79%)HP:0001817

Broad thumbs

Frequent (30-79%)HP:0011304

Dysplastic fingernails

Frequent (30-79%)HP:0100798

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Decreased body height

Occasional (5-29%)HP:0004322

Renal aplasia

Occasional (5-29%)HP:0000104

Absent outermost hand bone

HP:0009881

Broad distal phalanx of the thumb

HP:0009642

Notched outermost bone of thumb

HP:0009611

Notched pupil

HP:0000589

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Hereditary disorder of the visual system(parent)

Brachydactyly syndrome type B(parent)

Coloboma of macula(parent)

Quick Facts

SNOMED CT: 717785002
UMLS CUI: C1852752
Fully Specified Name: Coloboma of macula with brachydactyly type B syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.