724228005: Infantile choroidocerebral calcification syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Infantile choroidocerebral calcification syndrome

\Neurological lesion\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome

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

\Finding of brain\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Disorder of head\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile choroidocerebral calcification syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Infantile choroidocerebral calcification syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile choroidocerebral calcification syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile choroidocerebral calcification syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
\Disease\Degenerative disorder\Calcinosis\Infantile choroidocerebral calcification syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Infantile choroidocerebral calcification syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Infantile choroidocerebral calcification syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile choroidocerebral calcification syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Infantile choroidocerebral calcification syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3432896016 Infantile choroidocerebral calcification syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3432897013 Infantile choroidocerebral calcification syndrome en Synonym Active Case insensitive SNOMED CT core

3432898015 Choroid plexus calcification and mental retardation en Synonym Active Case insensitive SNOMED CT core

3432899011 This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile choroidocerebral calcification syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Infantile choroidocerebral calcification syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Calcinosis	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Infantile choroidocerebral calcification syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Infantile choroidocerebral calcification syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Infantile choroidocerebral calcification syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Infantile choroidocerebral calcification syndrome	Is a	Encephalopathy	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Extraskeletal calcification	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Lesion of brain	true	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome	Occurrence	Infancy	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome	Finding site	Structure of choroid plexus	true	Inferred relationship	Some	1
Infantile choroidocerebral calcification syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3432896016	Infantile choroidocerebral calcification syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3432897013	Infantile choroidocerebral calcification syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3432898015	Choroid plexus calcification and mental retardation	en	Synonym	Active	Case insensitive	SNOMED CT core
3432899011	This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	en	Definition	Active	Case sensitive	SNOMED CT core