1237421000: Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

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

\Finding of head circumference\Microcephaly\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Finding of brain\Disorder of brain\...

\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Finding of head region\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disorder of head\Disorder of brain\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disorder of head\Disorder of brain\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy

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

5099084012 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy en Synonym Active Entire term case insensitive SNOMED CT core module

5099085013 PYCR2-related microcephaly, progressive leucoencephalopathy en Synonym Active Entire term case sensitive SNOMED CT core module

5099086014 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5099087017 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy en Synonym Active Entire term case insensitive SNOMED CT core module

5099088010 PYCR2-related microcephaly, progressive leukoencephalopathy en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Chronic brain syndrome	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier	6
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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
5099084012	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099085013	PYCR2-related microcephaly, progressive leucoencephalopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099086014	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5099087017	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5099088010	PYCR2-related microcephaly, progressive leukoencephalopathy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module