726669007: Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Neurological lesion\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

\Disease\Disorder of cellular component of blood\Anemia\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Disease\Degenerative disorder\Calcinosis\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3451459014 Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3451460016 Central nervous system calcification, deafness, tubular acidosis, anemia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3451461017 Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3451462012 Yoshimura Takeshita syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Disorder of the central nervous system	false	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Extraskeletal calcification	false	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Anemia	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Neurological lesion	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	1
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	6
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Associated morphology	Pathologic calcification, calcified structure	true	Inferred relationship	Existential restriction modifier	5
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	5
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	6
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	4
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	1
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Calcinosis	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Hemoglobin below reference range	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Is a	Red blood cell count below reference range	true	Inferred relationship	Existential restriction modifier
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	7
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	8
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	8

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
3451459014	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3451460016	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3451461017	Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3451462012	Yoshimura Takeshita syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module