1237619001: deficiëntie van vetzuur-acyl-co-enzym-A-reductase 1 (aandoening)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)

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

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

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

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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 (core metadata concept)	SNOMED CT core
5100065016	FAR1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100066015	Fatty acyl-CoA reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100067012	PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100068019	Fatty acyl-coenzyme A reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13987641000146112	stoornis van peroxisomaal vetzuur-acyl-CoA-reductase 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987651000146110	deficiëntie van vetzuur-acyl-co-enzym-A-reductase 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987661000146113	PFCRD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987671000146119	deficiëntie van acyl-CoA-reductase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987681000146117	deficiëntie van vetzuur-acyl-co-enzym-A-reductase 1 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987691000146115	FAR1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5100069010	A rare disorder of plasmalogen biosynthesis with characteristics of syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation, short stature and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities and Dandy-Walker malformation have been described on brain imaging.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core