Congenital analgesia with severe intellectual disability

disorder

SNOMED 1237623009CUI C5679994

Overview

Congenital analgesia with severe 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.

Absence of pain sensation

Frequent (30-79%)HP:0007021

Bone infection

Frequent (30-79%)HP:0002754

Corneal inflammation

Frequent (30-79%)HP:0000491

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Loss of tactile sensation

Frequent (30-79%)HP:0010830

Reduced corneal reflex

Frequent (30-79%)HP:0008000

Self-mutilation

Frequent (30-79%)HP:0000742

Specific learning disability

Frequent (30-79%)HP:0001328

Squint

Frequent (30-79%)HP:0000486

Varying degree of multiple fractures

Frequent (30-79%)HP:0002757

Congenital bilateral hip dislocation

Occasional (5-29%)HP:0008780

Corneal erosion

Occasional (5-29%)HP:0200020

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Funny looking face

Occasional (5-29%)HP:0001999

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hyperplasia of nose

Occasional (5-29%)HP:0000448

Hypotonia, early

Occasional (5-29%)HP:0008947

Low birth weight

Occasional (5-29%)HP:0001518

Multifocal EEG abnormality

Occasional (5-29%)HP:0010841

Nasogastric tube feeding in infancy

Occasional (5-29%)HP:0011470

Oligohydramnios

Occasional (5-29%)HP:0001562

Rocker bottom feet

Occasional (5-29%)HP:0001838

Seesaw nystagmus

Occasional (5-29%)HP:0012044

Short limbs

Occasional (5-29%)HP:0009826

Short palpebral fissure

Occasional (5-29%)HP:0012745

Talipes equinovalgus

Occasional (5-29%)HP:0001772

Tibial bowing

Occasional (5-29%)HP:0002982

Unbalanced face

Occasional (5-29%)HP:0000324

Related Conditions

Hereditary sensory and autonomic neuropathy(parent)

Developmental hereditary disorder(parent)

Severe mental retardation (I.Q. 20-34)(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1237623009
UMLS CUI: C5679994
Fully Specified Name: Congenital insensitivity to pain with severe intellectual disability (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.