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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Fountain 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\Fountain syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fountain syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fountain syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Fountain syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Fountain syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fountain syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Fountain syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Fountain syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fountain syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Fountain syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Fountain syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Fountain syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Fountain syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fountain syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Fountain syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Fountain syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Fountain syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fountain syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Fountain syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Fountain syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Fountain syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Fountain syndrome

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

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3322643016 Fountain syndrome en Synonym Active Case sensitive SNOMED CT core

3322644010 Deafness with skeletal dysplasia and lip granuloma syndrome en Synonym Active Case insensitive SNOMED CT core

3322645011 Deafness, skeletal dysplasia, coarse face with full lips syndrome en Synonym Active Case insensitive SNOMED CT core

3322646012 An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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	Case insensitive	SNOMED CT core
3322643016	Fountain syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322644010	Deafness with skeletal dysplasia and lip granuloma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322645011	Deafness, skeletal dysplasia, coarse face with full lips syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322646012	An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core