720957007: Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Deafness with skeletal dysplasia and lip granuloma 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\Deafness with skeletal dysplasia and lip granuloma syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with skeletal dysplasia and lip granuloma syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Deafness with skeletal dysplasia and lip granuloma syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Deafness with skeletal dysplasia and lip granuloma syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with skeletal dysplasia and lip granuloma syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Deafness with skeletal dysplasia and lip granuloma syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness with skeletal dysplasia and lip granuloma syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma 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\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness with skeletal dysplasia and lip granuloma syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Deafness with skeletal dysplasia and lip granuloma syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322642014 Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322643016 Fountain syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3322644010 Deafness with skeletal dysplasia and lip granuloma syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3322645011 Deafness, skeletal dysplasia, coarse face with full lips syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Deafness with skeletal dysplasia and lip granuloma syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Deafness with skeletal dysplasia and lip granuloma syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Deafness with skeletal dysplasia and lip granuloma syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Deafness with skeletal dysplasia and lip granuloma syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deafness with skeletal dysplasia and lip granuloma syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deafness with skeletal dysplasia and lip granuloma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Deafness with skeletal dysplasia and lip granuloma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Deafness with skeletal dysplasia and lip granuloma syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Deafness with skeletal dysplasia and lip granuloma syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Deafness with skeletal dysplasia and lip granuloma syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Deafness with skeletal dysplasia and lip granuloma syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Deafness with skeletal dysplasia and lip granuloma syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Deafness with skeletal dysplasia and lip granuloma syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Deafness with skeletal dysplasia and lip granuloma syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322642014	Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322643016	Fountain syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322644010	Deafness with skeletal dysplasia and lip granuloma syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322645011	Deafness, skeletal dysplasia, coarse face with full lips syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module