Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome

disorder

SNOMED 1281843005CUI C5680310

Overview

Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature 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.

Bilateral blockage of the rear opening of the nasal cavity

Frequent (30-79%)HP:0004502

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Hypoplastic nipples

Frequent (30-79%)HP:0002557

Abnormally small eyeball

Occasional (5-29%)HP:0000568

Absent nipples

Occasional (5-29%)HP:0002561

Absent tear duct

Occasional (5-29%)HP:0007925

Athymia

Occasional (5-29%)HP:0005359

Atria septal defect

Occasional (5-29%)HP:0001631

Bilateral conductive hearing loss

Occasional (5-29%)HP:0008513

Branchial cleft cyst

Occasional (5-29%)HP:0009796

Broad big toe

Occasional (5-29%)HP:0010055

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Bulging forehead

Occasional (5-29%)HP:0011220

Choanal atresia

Occasional (5-29%)HP:0000453

Coanal stenosis

Occasional (5-29%)HP:0000452

Concave bridge of nose

Occasional (5-29%)HP:0005280

Congenital hypothyroidism

Occasional (5-29%)HP:0000851

Curvature of digit

Occasional (5-29%)HP:0030084

Decreased body height

Occasional (5-29%)HP:0004322

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Decreased transverse dimension of face

Occasional (5-29%)HP:0000275

Deficit in expressive language

Occasional (5-29%)HP:0002474

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Dystrophic nails

Occasional (5-29%)HP:0008404

External auditory meatal atresia

Occasional (5-29%)HP:0000413

Facial muscle weakness of muscles innervated by CN VII

Occasional (5-29%)HP:0010628

Gastroesophageal reflux disease

Occasional (5-29%)HP:0002020

Hearing loss, conductive

Occasional (5-29%)HP:0000405

Hearing loss, mixed

Occasional (5-29%)HP:0000410

Related Conditions

Congenital anomaly of ear with impairment of hearing(parent)

Autosomal dominant hereditary disorder(parent)

Ear, face and neck congenital anomalies(parent)

Choanal atresia(parent)

Hearing loss associated with syndrome(parent)

Congenital abnormality of nipple(parent)

Congenital abnormality of external ear(parent)

Congenital anomaly of the thyroid gland(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Developmental malformation of branchial arch(parent)

Multiple system malformation syndrome(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1281843005
UMLS CUI: C5680310
Fully Specified Name: Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (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.