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

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microcephalic primordial dwarfism due to ZNF335 deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to ZNF335 deficiency

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3431032019	Microcephalic primordial dwarfism due to ZNF335 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431033012	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3431034018	Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3431035017	Microcephalic primordial dwarfism Walsh type	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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