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81771002: Opitz-Frias syndrome (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 Reference Sets
135641010 Opitz-Frias syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
135642015 Opitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
135643013 Hypertelorism-hypospadias syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
135644019 G syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
135645018 Opitz's (J.M.) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
504790015 Congenital cleft larynx and Opitz-Frias syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
823079018 Opitz-Frias syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Opitz-Frias syndrome Is a Hypospadias false Inferred relationship Some
Opitz-Frias syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Opitz-Frias syndrome Is a Hereditary disorder of the urinary system true Inferred relationship Some
Opitz-Frias syndrome Is a Multiple malformation syndrome, moderate short stature, facial true Inferred relationship Some
Opitz-Frias syndrome Is a Sex-linked hereditary disorder true Inferred relationship Some
Opitz-Frias syndrome Is a Congenital cleft larynx true Inferred relationship Some
Opitz-Frias syndrome Course Multiple superficial injuries of lower leg false Inferred relationship Some
Opitz-Frias syndrome Occurrence Congenital false Inferred relationship Some
Opitz-Frias syndrome Finding site Male urethral structure false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of penis false Inferred relationship Some
Opitz-Frias syndrome Is a Hypospadias false Inferred relationship Some
Opitz-Frias syndrome Is a Hypospadias (disorder) false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of penis false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital malformation of genital organs (disorder) false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital malformation of the respiratory system false Inferred relationship Some
Opitz-Frias syndrome Is a Disorder of penis false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of perineum false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of male urogenital tract (disorder) false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of penis false Inferred relationship Some
Opitz-Frias syndrome Is a Urethral meatus finding false Inferred relationship Some
Opitz-Frias syndrome Is a Congenital anomaly of urethra false Inferred relationship Some
Opitz-Frias syndrome Is a Hypospadias, penile true Inferred relationship Some
Opitz-Frias syndrome Associated morphology Congenital malformation false Inferred relationship Some 1
Opitz-Frias syndrome Finding site Structure of urethral aspect of penis (body structure) true Inferred relationship Some 1
Opitz-Frias syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Opitz-Frias syndrome Occurrence Congenital true Inferred relationship Some 1
Opitz-Frias syndrome Finding site Laryngeal structure false Inferred relationship Some 1
Opitz-Frias syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Opitz-Frias syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Opitz-Frias syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Entire genital organ (body structure) false Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Congenital anomaly false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Entire genital organ (body structure) false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Penile structure false Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Congenital anomaly false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Female urethral structure false Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Congenital malformation false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Laryngeal structure false Inferred relationship Some 2
Opitz-Frias syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Opitz-Frias syndrome Occurrence Congenital true Inferred relationship Some 2
Opitz-Frias syndrome Finding site Structure of urethral meatus false Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Congenital malposition false Inferred relationship Some 2
Opitz-Frias syndrome Finding site Male external urethral orifice true Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 2
Opitz-Frias syndrome Finding site Laryngeal structure true Inferred relationship Some 3
Opitz-Frias syndrome Associated morphology Congenital anomaly false Inferred relationship Some 3
Opitz-Frias syndrome Finding site Urethral structure false Inferred relationship Some 3
Opitz-Frias syndrome Associated morphology Congenital malformation false Inferred relationship Some 3
Opitz-Frias syndrome Occurrence Congenital true Inferred relationship Some 3
Opitz-Frias syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Opitz-Frias syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Opitz-Frias syndrome Finding site Male genital structure false Inferred relationship Some 4
Opitz-Frias syndrome Finding site Genital structure false Inferred relationship Some 4
Opitz-Frias syndrome Occurrence Congenital false Inferred relationship Some 4
Opitz-Frias syndrome Associated morphology Congenital malposition false Inferred relationship Some 4
Opitz-Frias syndrome Finding site Structure of urethral meatus false Inferred relationship Some 4
Opitz-Frias syndrome Occurrence Congenital false Inferred relationship Some 5
Opitz-Frias syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 5
Opitz-Frias syndrome Finding site Structure of urethral aspect of penis (body structure) false Inferred relationship Some 5
Opitz-Frias syndrome Occurrence Congenital false Inferred relationship Some 6
Opitz-Frias syndrome Finding site Laryngeal structure false Inferred relationship Some 6
Opitz-Frias syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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