Autoimmune endocrine disease
Autoimmune endocrine disease
Autoimmune enteropathy
Autoimmune enteropathy
Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
Congenital disorder of intestine
Congenital immunodeficiency disease
Congenital immunodeficiency disease
Digestive system hereditary disorder
Digestive system hereditary disorder
Gastrointestinal complication
Hereditary disorder of endocrine system
Hereditary disorder of endocrine system
Hereditary disorder of immune system
Hereditary disorder of immune system
Immunodeficiency associated with chromosomal abnormality
Immunodeficiency associated with chromosomal abnormality
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Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome
An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia.
syndroom van auto-immune enteropathie en endocrinopathie met vatbaarheid voor chronische infecties
Id722288007
StatusPrimitive
Due toChromosomal disorder
Due toChromosomal disorder
Finding siteStructure of small intestine
Finding siteStructure of small intestine
OccurrenceCongenital
OccurrenceCongenital
Pathological processAutoimmune process
Pathological processAutoimmune process
Finding siteStructure of endocrine system
Finding siteStructure of endocrine system
OccurrenceCongenital
OccurrenceCongenital
Pathological processAutoimmune process
Pathological processAutoimmune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK63.8
RuleTRUE
AdviceALWAYS K63.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.8
RuleTRUE
AdviceALWAYS E34.8
CorrelationSNOMED CT source code to target map code correlation not specified