719394002: Microcephalus cleft palate syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Finding of head region\Orofacial cleft\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Microcephalus cleft palate syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft\Cleft palate\Microcephalus cleft palate 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\Microcephalus cleft palate syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate 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
3316160014	Microcephalus cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316161013	Microcephalus cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316162018	Microcephaly cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316193017	Halal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402081015	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402082010	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterised by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goitre, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316160014	Microcephalus cleft palate syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316160014	Microcephalus cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316161013	Microcephalus cleft palate syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316161013	Microcephalus cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316162018	Microcephaly cleft palate syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316162018	Microcephaly cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316193017	Halal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316194011	This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316195012	This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402081015	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402082010	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterised by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goitre, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451041001000113	Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451041001000113	Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom	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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