724141003: Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3431031014	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431032019	Microcephalic primordial dwarfism due to ZNF335 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431033012	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431034018	Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431035017	Microcephalic primordial dwarfism Walsh type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403243010	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403244016	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterised by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431031014	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431032019	Microcephalic primordial dwarfism due to ZNF335 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431033012	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431034018	Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431035017	Microcephalic primordial dwarfism Walsh type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3431036016	Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403243010	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403244016	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterised by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416961001000111	Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416961001000111	Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel	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)

Back to Start