81771002: Opitz-Frias syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of neck region\Larynx finding\Disorder of the larynx (disorder)\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of neck region\Larynx finding\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of neck region\Disease of neck\Lesion of neck\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of neck region\Disease of neck\Disorder of the larynx (disorder)\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of neck region\Disease of neck\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of neck region\Disease of neck\Congenital anomaly of neck\Congenital anomaly of anterior portion of neck (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome

\Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disorder of the larynx (disorder)\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disease of upper respiratory system\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Upper respiratory tract finding\Disease 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\Disease of upper respiratory system\Disorder of the larynx (disorder)\Lesion of larynx (disorder)\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Disease of upper respiratory system\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Respiratory finding\Disorder of respiratory system\Disease 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\Respiratory condition of fetus OR newborn\Congenital malformation of the 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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
135641010	Opitz-Frias syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135642015	Opitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135643013	Hypertelorism-hypospadias syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
135644019	G syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135645018	Opitz's (J.M.) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
823079018	Opitz-Frias syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135641010	Opitz-Frias syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135642015	Opitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135643013	Hypertelorism-hypospadias syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
135643013	Hypertelorism-hypospadias syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
135644019	G syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135645018	Opitz's (J.M.) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
823079018	Opitz-Frias syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
823079018	Opitz-Frias syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386171001000113	Opitz G/BBB-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4657271000241114	syndrome d'Opitz-Frias	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4657271000241114	syndrome d'Opitz-Frias	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386171001000113	Opitz G/BBB-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module