Deficiency of phosphoribosylaminoimidazole carboxylase

disorder

SNOMED 124597000CUI C1291561

Overview

Deficiency of phosphoribosylaminoimidazole carboxylase 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.

Concave bridge of nose

Always present (100%)HP:0005280

Cryptorchidism, bilateral

Always present (100%)HP:0008689

Esophageal atresia

Always present (100%)HP:0002032

Flat facial shape

Always present (100%)HP:0012368

Increased amniotic fluid index

Always present (100%)HP:0001561

Low-set ears

Always present (100%)HP:0000369

Short and broad skull

Always present (100%)HP:0000248

Short neck

Always present (100%)HP:0000470

Small nose

Always present (100%)HP:0003196

Subcoronal hypospadias

Always present (100%)HP:0008743

Abnormal connection between trachea and esophagus

Frequent (30-79%)HP:0002575

Bilateral blockage of the rear opening of the nasal cavity

Frequent (30-79%)HP:0004502

Bilateral fifth digit clinodactyly

Frequent (30-79%)HP:0004209

Choanal atresia

Frequent (30-79%)HP:0000453

Coanal stenosis

Frequent (30-79%)HP:0000452

Decreased body height

Frequent (30-79%)HP:0004322

Fetal foot inversion

Frequent (30-79%)HP:0001762

Increased distance between eyes

Frequent (30-79%)HP:0000316

Lumbar hemivertebrae

Frequent (30-79%)HP:0008439

Missing ribs

Frequent (30-79%)HP:0000921

Nostrils anteverted

Frequent (30-79%)HP:0000463

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124597000
UMLS CUI: C1291561
Fully Specified Name: Deficiency of phosphoribosylaminoimidazole carboxylase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.