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Antley-Bixler Syndrome with Disordered Steroidogenesis (CUI C1860042) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1860042

Semantic Type: Disease or Syndrome

MSH Definition: Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).

SNOMEDCT_US Definition: A unique form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.

SNOMEDCT_US Definition: A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance.

Synonyms & Abbreviations: (see Synonym Details)
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis
Antley Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase
Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Cytochrome P450 Oxidoreductase Deficiency
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
POR Deficiency

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUt8Y SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
EFFECTIVE_TIME 20160731 SNOMEDCT_US
GENELOCUS ,7,q,1,1,.,2, OMIM
GENESYMBOL POR OMIM
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MODIFIER_ID 900000000000451002 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E25.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E25.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E25.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E25.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUt8Y SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T702503 MSH
TERMUI T702504 MSH
TERMUI T809848 MSH
TERMUI T809849 MSH
TERMUI T812666 MSH
TERMUI T812667 MSH
TERMUI T841236 MSH
TERMUI T841237 MSH
TH GHR (2014) MSH
TH NLM (2009) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1860042

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