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717260007: Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308868019 Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308869010 Congenital lipoid adrenal hyperplasia due to STAR deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308870011 Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401535013 A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401536014 A severe form of congenital adrenal hyperplasia (CAH) characterised by severe adrenal insufficiency and sex reversal in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Is a Congenital adrenal hyperplasia true Inferred relationship Some
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Associated morphology Congenital hyperplasia false Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Finding site Adrenal cortex structure true Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Associated morphology Hyperplasia true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) Is a True Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Inferred relationship Some
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form Is a True Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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