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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)
• \Head finding (finding)\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)
• \Head finding (finding)\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)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \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 (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (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\Disorder of auditory system\Hearing disorder (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\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (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\Hearing finding\Hearing disorder (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\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (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)\Intelligenzminderung\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (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\Hearing disorder (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\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (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\Intelligenzminderung\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (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 (disorder)\X-linked hereditary disease\X-linked sensorineural hearing loss\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\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\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (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 (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 (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 (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 (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 (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\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Deafness and intellectual disability Martin Probst type syndrome (disorder)
• \Disease\Developmental disorder (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 (disorder)
• \Disease\Developmental disorder (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
5402593018	A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402594012	A rare X-linked syndromic intellectual disability characterised by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5402593018	A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402594012	A rare X-linked syndromic intellectual disability characterised by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432051001000118	Schwerhörigkeit-Intelligenzminderung-Syndrom vom Typ Martin-Probst	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855451000241112	syndrome de surdité et déficience intellectuelle lié à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855461000241110	syndrome de surdité et déficience intellectuelle de type Martin-Probst	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855471000241119	syndrome de Martin-Probst	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855451000241112	syndrome de surdité et déficience intellectuelle lié à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855461000241110	syndrome de surdité et déficience intellectuelle de type Martin-Probst	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5855471000241119	syndrome de Martin-Probst	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432051001000118	Schwerhörigkeit-Intelligenzminderung-Syndrom vom Typ Martin-Probst	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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