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57514000: deficiëntie van 5-alfareductase-2 (aandoening)

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
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
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
55451000146113 5-alfareductase-2-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
936811000146112 5-alfareductase-2-deficiëntie (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8676571000146110 deficiëntie van 5-alfareductase-2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8676581000146112 deficiëntie van 5-alfareductase-2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Male pseudohermaphroditism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Enzymopathy true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disorder of steroid metabolism false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Reproductive system hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hereditary disorder of the urinary system true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Course Multiple superficial injuries of lower leg false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Testis structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disorder of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Penile structure false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of penis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Female urethral structure false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra (body structure) true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of male urogenital tract (disorder) true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital malformation of the urinary system false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of urethra true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site External genitalia structure true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Developmental hereditary disorder true Inferred relationship Some
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 Some 1

This concept is not in any reference sets

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