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 zinc finger protein 335 deficiency

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

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

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

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

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

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

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 SNOMED CT core module

3431032019 Microcephalic primordial dwarfism due to ZNF335 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3431033012 Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

3431034018 Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3431035017 Microcephalic primordial dwarfism Walsh type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

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	SNOMED CT core module
3431032019	Microcephalic primordial dwarfism due to ZNF335 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3431033012	Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3431034018	Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3431035017	Microcephalic primordial dwarfism Walsh type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module