719466009: Cleft palate with short stature and vertebral anomaly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Cleft palate with short stature and vertebral anomaly 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Cleft palate with short stature and vertebral anomaly 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
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316452016	Mathieu De Broca Bony syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402126013	A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402127016	A rare, genetic, multiple congenital anomalies syndrome characterised by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316452016	Mathieu De Broca Bony syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316453014	A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402126013	A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402127016	A rare, genetic, multiple congenital anomalies syndrome characterised by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384951001000112	Gaumenspalte - Kleinwuchs - Fehlbildungen der Wirbel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5835691000241117	syndrome de fente palatine avec petite taille et anomalie vertébrale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5835691000241117	syndrome de fente palatine avec petite taille et anomalie vertébrale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384951001000112	Gaumenspalte - Kleinwuchs - Fehlbildungen der Wirbel	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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