716238003: Deafness with epiphyseal dysplasia and short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Finding of lower limb\Finding of thigh\Disorder of thigh\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome

\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\Deafness with epiphyseal dysplasia and short stature syndrome
\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\Deafness with epiphyseal dysplasia and short stature syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature 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\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of extremity\Disorder of lower extremity\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of extremity\Disorder of lower extremity\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature 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\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Deafness with epiphyseal dysplasia and short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness with epiphyseal dysplasia and short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3305174018 Deafness with epiphyseal dysplasia and short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3305175017 Deafness with epiphyseal dysplasia and short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3305176016 Chitty Hall Baraitser syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Deafness with epiphyseal dysplasia and short stature syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Deafness with epiphyseal dysplasia and short stature syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Deafness with epiphyseal dysplasia and short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Deafness with epiphyseal dysplasia and short stature syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Deafness with epiphyseal dysplasia and short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	6
Deafness with epiphyseal dysplasia and short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Deafness with epiphyseal dysplasia and short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Deafness with epiphyseal dysplasia and short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Deafness with epiphyseal dysplasia and short stature syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Congenital anomaly of femur	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Deafness with epiphyseal dysplasia and short stature syndrome	Finding site	Structure of femoral epiphysis	true	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Deafness with epiphyseal dysplasia and short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Deafness with epiphyseal dysplasia and short stature syndrome	Is a	Epiphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5

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
3305174018	Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3305175017	Deafness with epiphyseal dysplasia and short stature syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3305176016	Chitty Hall Baraitser syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module