766870005: Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3662960019 Finucane Kurtz Scott syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3662961015 Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3662962010 Epiphyseal dysplasia, hearing loss, dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Epiphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	5
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Finding site	Structure of epiphysis	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Chronic mental disorder	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Chronic disease of ear	false	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	6
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	7
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	8
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	8
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	Is a	Chronic deafness	true	Inferred relationship	Existential restriction modifier

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
3662960019	Finucane Kurtz Scott syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3662961015	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3662962010	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module