770404004: Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Autosomal recessive chorioretinopathy and microcephaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Autosomal recessive chorioretinopathy and microcephaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3700710018 Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3700711019 Autosomal recessive chorioretinopathy and microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3700712014 Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Finding site	Structure of visual system	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive chorioretinopathy and microcephaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive chorioretinopathy and microcephaly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive chorioretinopathy and microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive chorioretinopathy and microcephaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive chorioretinopathy and microcephaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive chorioretinopathy and microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive chorioretinopathy and microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive chorioretinopathy and microcephaly syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive chorioretinopathy and microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Autosomal recessive chorioretinopathy and microcephaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive chorioretinopathy and microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Autosomal recessive chorioretinopathy and microcephaly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Autosomal recessive chorioretinopathy and microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
3700710018	Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3700711019	Autosomal recessive chorioretinopathy and microcephaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3700712014	Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module