81771002: Opitz-Frias syndrome (disorder)

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

\Finding of head and neck region\Finding of neck region\Larynx finding (finding)\Disorder of the larynx (disorder)\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Larynx finding (finding)\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\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)\Disorder of the larynx (disorder)\Lesion of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Congenital anomaly of larynx\Congenital cleft larynx\Opitz-Frias syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Congenital anomaly of anterior portion of neck (disorder)\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 (finding)\Disorder of the larynx (disorder)\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 (finding)\Disorder of the larynx (disorder)\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)\Disorder of the larynx (disorder)\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)\Disorder of the larynx (disorder)\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)\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)\Disorder of the larynx (disorder)\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)\Disorder of the larynx (disorder)\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)\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	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	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Opitz-Frias syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Opitz-Frias syndrome	Finding site	Laryngeal structure	true	Inferred relationship	Some	3
Opitz-Frias syndrome	Finding site	Male genital structure	false	Inferred relationship	Some	4
Opitz-Frias syndrome	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
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	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	2
Opitz-Frias syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Opitz-Frias syndrome	Finding site	Genital structure	false	Inferred relationship	Some	4
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 malformation	false	Inferred relationship	Some	1
Opitz-Frias syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Opitz-Frias syndrome	Finding site	Structure of urethral aspect of penis (body structure)	true	Inferred relationship	Some	1
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	Finding site	Female urethral structure	false	Inferred relationship	Some	2
Opitz-Frias syndrome	Finding site	Urethral structure	false	Inferred relationship	Some	3
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	Associated morphology	Congenital malformation	false	Inferred relationship	Some	3
Opitz-Frias syndrome	Is a	Congenital malformation of the respiratory system (disorder)	false	Inferred relationship	Some
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	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	Occurrence	Congenital	false	Inferred relationship	Some	4
Opitz-Frias syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Opitz-Frias syndrome	Associated morphology	Developmental anomaly	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	Is a	Congenital anomaly of penis	false	Inferred relationship	Some
Opitz-Frias syndrome	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	5
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	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	6
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	Occurrence	Congenital	true	Inferred relationship	Some	3
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	3
Opitz-Frias syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Opitz-Frias syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Opitz-Frias syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	3
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	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Opitz-Frias syndrome	Is a	Penile hypospadias (disorder)	true	Inferred relationship	Some
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	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
1537471000172117	syndrome d'Opitz-Frias	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1357351000172118	syndroom van Opitz-Frias	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)