SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/1234831009
http://purl.bioontology.org/ontology/SNOMEDCT/1234831009
Preferred Name

MIRAGE syndrome
Definitions
A rare genetic disease characterised by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anaemia, recurrent severe invasive infections, and enteropathy with chronic diarrhoea. 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. A rare genetic disease characterized by 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. 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. 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 anaemia, recurrent severe invasive infections and enteropathy with chronic diarrhoea. 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.
Synonyms
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A rare genetic disease characterised by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anaemia, recurrent severe invasive infections, and enteropathy with chronic diarrhoea. 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.

A rare genetic disease characterized by 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.

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.

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 anaemia, recurrent severe invasive infections and enteropathy with chronic diarrhoea. 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.
prefLabel
MIRAGE syndrome
altLabel
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20220731
cui
C4284088
Has pathological process
CTV3ID
XVIkE
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
1234831009
type
subClassOf
Due to
Subset member
6011000124106~MAPTARGET~E34.328
447562003~MAPRULE~TRUE
6011000124106~MAPRULE~IFA 248153007 | Male (finding) |
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPADVICE~ALWAYS E34.328
6011000124106~MAPADVICE~ALWAYS D46.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~K63.9
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q52.9
6011000124106~MAPTARGET~P39.9
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P39.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPGROUP~6
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS E25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XVIkE
6011000124106~MAPTARGET~Q89.1
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q55.9
6011000124106~MAPADVICE~ALWAYS K63.9
6011000124106~MAPADVICE~ALWAYS B99.9
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~5
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPGROUP~4
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPADVICE~IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER
6011000124106~MAPADVICE~IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 445518008 &#x7C; Age at onset of clinical finding (observable entity) &#x7C; < 29.0 days
6011000124106~MAPTARGET~B99.9
6011000124106~MAPTARGET~D46.9
447562003~MAPTARGET~E25.8
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPPRIORITY~3
6011000124106~MAPRULE~IFA 248152002 &#x7C; Female (finding) &#x7C;
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
6011000124106~MAPADVICE~ALWAYS Q89.1
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