46,XY disorder of sex development
Adrenogenital disorder
Autosomal dominant hereditary disorder
Congenital hypoplasia of adrenal gland
Developmental hereditary disorder
Hereditary disorder of endocrine system
Multiple system malformation syndrome
Reproductive system hereditary disorder
Short stature co-occurrent and due to endocrine disorder
|||||||||
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)
MIRAGE syndrome
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome
A rare genetic disease with characteristics of pre and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly and arachnodactyly among others) may also be observed.
Id1234831009
StatusPrimitive
Due toDisorder of endocrine system
Associated morphologyMorphologically abnormal structure
Finding siteGenital structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteAdrenal cortex structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height measure
ICD-10 complex map reference set
TargetE25.8
RuleTRUE
AdviceALWAYS E25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified