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57514000: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95638016 Steroid 5a-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
198752011 Steroid 5-alpha-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
497912019 5-alpha reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95638016 Steroid 5a-reductase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95638016 Steroid 5a-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95639012 Pseudovaginal perineoscrotal hypospadias en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95639012 Pseudovaginal perineoscrotal hypospadias en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95640014 Familial incomplete male pseudohermaphroditism, type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95640014 Familial incomplete male pseudohermaphroditism, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95641013 PPSH en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
198752011 Steroid 5-alpha-reductase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198752011 Steroid 5-alpha-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
497912019 5-alpha reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
497912019 5-alpha reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3388411001000110 Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4578491000241115 déficit en 3-oxo-5 alpha-stéroïde delta 4-déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4578491000241115 déficit en 3-oxo-5 alpha-stéroïde delta 4-déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388411001000110 Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Male pseudohermaphroditism true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disorder of steroid metabolism false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male urethral structure false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Course Multiple superficial injuries of lower leg false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Testis structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disease of testis false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Penile structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of penis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Female urethral structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of testis false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Urethral structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra true Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of male urogenital tract true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital malformation of the urinary system false Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of urethra true Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra false Inferred relationship Existential restriction modifier (core metadata concept) 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site External genitalia structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudovaginal perineoscrotal hypospadias Due to True 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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