782911008: Hereditary cryohydrocytosis with reduced stomatin (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin

\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756658016 Hereditary cryohydrocytosis with reduced stomatin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756659012 Hereditary cryohydrocytosis with reduced stomatin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756660019 sdCHC - stomatin-deficient cryohydrocytosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756661015 Hereditary cryohydrocytosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756662010 CHC (hereditary cryohydrocytosis) type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756663017 Stomatin-deficient cryohydrocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756664011 A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3756665012 A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary cryohydrocytosis with reduced stomatin	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary cryohydrocytosis with reduced stomatin	Is a	Intellectual disability	true	Inferred relationship	Some
Hereditary cryohydrocytosis with reduced stomatin	Is a	Hereditary stomatocytosis	true	Inferred relationship	Some
Hereditary cryohydrocytosis with reduced stomatin	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary cryohydrocytosis with reduced stomatin	Associated morphology	Stomatocyte	true	Inferred relationship	Some	3
Hereditary cryohydrocytosis with reduced stomatin	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary cryohydrocytosis with reduced stomatin	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary cryohydrocytosis with reduced stomatin	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary cryohydrocytosis with reduced stomatin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Hereditary cryohydrocytosis with reduced stomatin	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hereditary cryohydrocytosis with reduced stomatin	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Hereditary cryohydrocytosis with reduced stomatin	Has interpretation	Impaired	true	Inferred relationship	Some	6
Hereditary cryohydrocytosis with reduced stomatin	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Hereditary cryohydrocytosis with reduced stomatin	Has interpretation	Impaired	true	Inferred relationship	Some	7

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
3756658016	Hereditary cryohydrocytosis with reduced stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756659012	Hereditary cryohydrocytosis with reduced stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756660019	sdCHC - stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756661015	Hereditary cryohydrocytosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756662010	CHC (hereditary cryohydrocytosis) type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756663017	Stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756664011	A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756665012	A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core