1237619001: Fatty acyl-coenzyme A reductase 1 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Severe intellectual disability\Fatty acyl-coenzyme A reductase 1 deficiency

\Finding of general physiological development\Disorder of stature\Short stature disorder\Fatty acyl-coenzyme A reductase 1 deficiency

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency

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

\Finding of head circumference\Microcephaly\Fatty acyl-coenzyme A reductase 1 deficiency

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Fatty acyl-coenzyme A reductase 1 deficiency
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Severe intellectual disability\Fatty acyl-coenzyme A reductase 1 deficiency
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Severe intellectual disability\Fatty acyl-coenzyme A reductase 1 deficiency

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Fatty acyl-coenzyme A reductase 1 deficiency

\Finding of head circumference\Microcephaly\Fatty acyl-coenzyme A reductase 1 deficiency

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Fatty acyl-coenzyme A reductase 1 deficiency
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Fatty acyl-coenzyme A reductase 1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5100063011 Fatty acyl-coenzyme A reductase 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

5100065016 FAR1 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

5100066015 Fatty acyl-CoA reductase 1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

5100067012 PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder en Synonym Active Entire term case sensitive SNOMED CT core module

5100068019 Fatty acyl-coenzyme A reductase 1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Loss of single peroxisomal function	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Severe intellectual disability	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	4
Fatty acyl-coenzyme A reductase 1 deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Fatty acyl-coenzyme A reductase 1 deficiency	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	1
Fatty acyl-coenzyme A reductase 1 deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	1
Fatty acyl-coenzyme A reductase 1 deficiency	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	2
Fatty acyl-coenzyme A reductase 1 deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Fatty acyl-coenzyme A reductase 1 deficiency	Interprets	Body height measure	true	Inferred relationship	Existential restriction modifier	3
Fatty acyl-coenzyme A reductase 1 deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	6
Fatty acyl-coenzyme A reductase 1 deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	6
Fatty acyl-coenzyme A reductase 1 deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Fatty acyl-coenzyme A reductase 1 deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5

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
5100063011	Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5100065016	FAR1 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5100066015	Fatty acyl-CoA reductase 1 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5100067012	PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5100068019	Fatty acyl-coenzyme A reductase 1 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module