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

SNOMED CT Concept\Clinical finding (finding)\...

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)

\Neurological lesion\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)

\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)

\Disease\Disorder of cellular component of blood (disorder)\Anemia\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\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Disease\Disorder of body system\Disorder 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\Mental disorder\Developmental mental disorder\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\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

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

4002141000052114 syndrom med kalciuminlagring i centrala nervsystemet, dövhet, tubulär acidos och anemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	förkalkning utanför skelettet	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Anemia	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Neurological lesion	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	1
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	5
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	5
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	6
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	1
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Calcinosis	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	Hemoglobin low	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	RBC count low	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
4002141000052114	syndrom med kalciuminlagring i centrala nervsystemet, dövhet, tubulär acidos och anemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)