81771002: Opitz-Frias syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Finding of neck region\Larynx finding\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Larynx finding\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Lesion of neck\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Congenital anomaly of anterior portion of neck\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome

\Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Congenital malformation of the respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Disorder of upper respiratory system\Disorder of the larynx\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Disorder of upper respiratory system\Disorder of the larynx\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Disorder of upper respiratory system\Congenital anomaly of upper respiratory system\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

135641010 Opitz-Frias syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

135642015 Opitz syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

135643013 Hypertelorism-hypospadias syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

135644019 G syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

135645018 Opitz's (J.M.) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

504790015 Congenital cleft larynx and Opitz-Frias syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

823079018 Opitz-Frias syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
135641010	Opitz-Frias syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
135642015	Opitz syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
135643013	Hypertelorism-hypospadias syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
135644019	G syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
135645018	Opitz's (J.M.) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
504790015	Congenital cleft larynx and Opitz-Frias syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
823079018	Opitz-Frias syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module