1260203008: Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\EVEN-plus syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\EVEN-plus syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Finding of vertebra\EVEN-plus syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\EVEN-plus syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\EVEN-plus syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\EVEN-plus syndrome
\Musculoskeletal finding\Vertebral column finding\Finding of vertebra\EVEN-plus syndrome
\Musculoskeletal finding\Bone finding\Finding of vertebra\EVEN-plus syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\EVEN-plus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\EVEN-plus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\EVEN-plus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\EVEN-plus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\EVEN-plus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\EVEN-plus syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\EVEN-plus syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Disorder of head\Disorder of ear\Chronic disease of ear\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\EVEN-plus syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Disease\Chronic disease\Chronic disease of ear\EVEN-plus syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\EVEN-plus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\EVEN-plus syndrome

Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5159717013 Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5159718015 EVEN-plus syndrome en Synonym Active Case sensitive SNOMED CT core

5159719011 Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome en Synonym Active Case insensitive SNOMED CT core

5159720017 EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome en Synonym Active Case sensitive SNOMED CT core

5159725010 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. en Definition Active Case sensitive SNOMED CT core

5159726011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
EVEN-plus syndrome	Is a	Congenital anomaly of nose	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Congenital anomaly of ear	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Finding of vertebra	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Disorder of vertebral column	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
EVEN-plus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
EVEN-plus syndrome	Finding site	Bone structure of vertebra	true	Inferred relationship	Some	1
EVEN-plus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
EVEN-plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
EVEN-plus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
EVEN-plus syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Some	2
EVEN-plus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
EVEN-plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
EVEN-plus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
EVEN-plus syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3
EVEN-plus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
EVEN-plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
EVEN-plus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
EVEN-plus syndrome	Finding site	Nasal structure	true	Inferred relationship	Some	4
EVEN-plus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
EVEN-plus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
EVEN-plus syndrome	Is a	Chronic disease of ear	true	Inferred relationship	Some
EVEN-plus syndrome	Is a	Epiphyseal dysplasia	true	Inferred relationship	Some
EVEN-plus syndrome	Clinical course	Progressive	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5159717013	Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5159718015	EVEN-plus syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159719011	Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159720017	EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159725010	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.	en	Definition	Active	Case sensitive	SNOMED CT core
5159726011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.	en	Definition	Active	Case sensitive	SNOMED CT core