721087008: Deafness and intellectual disability Martin Probst type syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Deafness and intellectual disability Martin Probst type 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 and intellectual disability Martin Probst type syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss of left ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss of right ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss of left ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss of right ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss of left ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss of right ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Deafness and intellectual disability Martin Probst type syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss of left ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss of right ear\Bilateral hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness and intellectual disability Martin Probst type 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

3323439015 Deafness and intellectual disability Martin Probst type syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3323440018 Deafness and intellectual disability Martin Probst type syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3323441019 Martin Probst syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3323442014 X-linked deafness and intellectual disability 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 and intellectual disability Martin Probst type syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Bilateral hearing loss	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	2
Deafness and intellectual disability Martin Probst type syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Deafness and intellectual disability Martin Probst type syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Deafness and intellectual disability Martin Probst type syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Deafness and intellectual disability Martin Probst type syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Deafness and intellectual disability Martin Probst type syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Deafness and intellectual disability Martin Probst type syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Deafness and intellectual disability Martin Probst type syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Deafness and intellectual disability Martin Probst type syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Deafness and intellectual disability Martin Probst type syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	2
Deafness and intellectual disability Martin Probst type syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Deafness and intellectual disability Martin Probst type syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deafness and intellectual disability Martin Probst type syndrome	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Deafness and intellectual disability Martin Probst type syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Deafness and intellectual disability Martin Probst type syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Deafness and intellectual disability Martin Probst type syndrome	Has interpretation	Impaired	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
3323439015	Deafness and intellectual disability Martin Probst type syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3323440018	Deafness and intellectual disability Martin Probst type syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3323441019	Martin Probst syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3323442014	X-linked deafness and intellectual disability syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module