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

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome

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

\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Central nervous system calcification, deafness, tubular acidosis, anaemia 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, anaemia 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, anaemia syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome

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

\Disease\Blood disease\Anaemia\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Disease\Degenerative disorder\Calcinosis\Central nervous system calcification, deafness, tubular acidosis, anaemia 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, anaemia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3451460016 Central nervous system calcification, deafness, tubular acidosis, anemia syndrome en Synonym Active Case insensitive SNOMED CT core

3451461017 Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome en Synonym Active Case insensitive SNOMED CT core

3451462012 Yoshimura Takeshita syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	1
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Calcinosis	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Haemoglobin low	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	RBC count low	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Disorder of the central nervous system	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Extraskeletal calcification	false	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Anaemia	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Is a	Neurological lesion	true	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Finding site	Ear structure	false	Inferred relationship	Some	1
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	5
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	5
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	6
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Central nervous system calcification, deafness, tubular acidosis, anaemia 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
3451459014	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451460016	Central nervous system calcification, deafness, tubular acidosis, anemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451461017	Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451462012	Yoshimura Takeshita syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core