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

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head and neck region\Head finding (finding)\...

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

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

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

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

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

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

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 (core metadata concept) SNOMED CT core

3323440018 Deafness and intellectual disability Martin Probst type syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3323441019 Martin Probst syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323442014 X-linked deafness and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323443016 This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3889761000052116 syndrom med dövhet och intellektuell funktionsnedsättning, typ Martin Probst sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Bilateral hearing loss	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	4
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Some
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set

GB English

US English

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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 (core metadata concept)	SNOMED CT core
3323440018	Deafness and intellectual disability Martin Probst type syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323441019	Martin Probst syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323442014	X-linked deafness and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323443016	This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3889761000052116	syndrom med dövhet och intellektuell funktionsnedsättning, typ Martin Probst	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)