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

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)

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

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

3983491000052113 mikrocefal primordial kortvuxenhet orsakad av ZNF335-brist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Primordial dwarfism	true	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	Congenital microencephaly (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3983491000052113	mikrocefal primordial kortvuxenhet orsakad av ZNF335-brist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)