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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
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 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) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
95640014 Familial incomplete male pseudohermaphroditism, type 2 en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
95641013 PPSH en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) organes génitaux externes (structure corporelle) true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Disorder of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) pénis (structure corporelle) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Inborn error of metabolism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Male pseudohermaphroditism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Enzymopathy true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Disorder of steroid metabolism false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hereditary disorder of the urinary system true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of penis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) urètre féminin (structure corporelle) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of testis (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) structure de l'urètre false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Part of male urethra (body structure) true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of male urogenital tract (disorder) true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital malformation of the urinary system false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of urethra true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Part of male urethra (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Male genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Male urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Course Multiple superficial injuries of lower leg false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) testicule (structure corporelle) false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudovaginal perineoscrotal hypospadias Due to True 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Inferred relationship Some 1

This concept is not in any reference sets

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