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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Neurological lesion\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \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 (disorder)
• \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 (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Degenerative disorder\Calcinosis\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)

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

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 (core metadata concept)	SNOMED CT core
3451460016	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451461017	Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451462012	Yoshimura Takeshita syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403571015	A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403572010	A rare genetic neurological disorder characterised by early-onset progressive leucoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451459014	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451460016	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451461017	Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451462012	Yoshimura Takeshita syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451463019	This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451464013	This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403571015	A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403572010	A rare genetic neurological disorder characterised by early-onset progressive leucoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392841001000110	Schwerhörigkeit - tubuläre Azidose - Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
909711000172112	syndrome de calcification du système nerveux central-surdité-acidose tubulaire-anémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932161000172111	syndrome de Yoshimura-Takeshita	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
909711000172112	syndrome de calcification du système nerveux central-surdité-acidose tubulaire-anémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
932161000172111	syndrome de Yoshimura-Takeshita	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392841001000110	Schwerhörigkeit - tubuläre Azidose - Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start