X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

disorder

SNOMED 1172697000CUI C5567523

Overview

X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Abnormal cortical gyration

Frequent (30-79%)HP:0002536

Abnormal eye

Frequent (30-79%)HP:0000478

Absent anus

Frequent (30-79%)HP:0002023

Choanal atresia

Frequent (30-79%)HP:0000453

Dandy-Walker cyst

Frequent (30-79%)HP:0001305

Decreased body height

Frequent (30-79%)HP:0004322

Depigmentation/hyperpigmentation of skin

Frequent (30-79%)HP:0007483

Genitourinary dysplasia

Frequent (30-79%)HP:0000119

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypotonia, early

Frequent (30-79%)HP:0008947

Postaxial hexadactyly

Frequent (30-79%)HP:0100259

1-minute APGAR score of 1

Occasional (5-29%)HP:0030928

5-minute APGAR score of 5

Occasional (5-29%)HP:0030925

Abnormal circulating thyroid hormone concentration

Occasional (5-29%)HP:0031508

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Abnormal tissue mass

Occasional (5-29%)HP:0002664

Abnormality of the abdominal wall

Occasional (5-29%)HP:0004298

Abnormality of the periodontium

Occasional (5-29%)HP:0410026

Atria septal defect

Occasional (5-29%)HP:0001631

Brain wasting

Occasional (5-29%)HP:0012444

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Bulging forehead

Occasional (5-29%)HP:0011220

Bunion

Occasional (5-29%)HP:0001822

Cataract

Occasional (5-29%)HP:0000518

Cerebellar hypoplasia/atrophy

Occasional (5-29%)HP:0007360

Cerebellar vermis hypoplasia

Occasional (5-29%)HP:0001320

Choledochal cyst

Occasional (5-29%)HP:0100890

Related Conditions

X-linked dominant hereditary disease(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172697000
UMLS CUI: C5567523
Fully Specified Name: X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (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.