733096007: Thyrocerebrorenal syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Thyrocerebrorenal syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Thyrocerebrorenal syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome

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

\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Thyrocerebrorenal syndrome
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Thyrocerebrorenal syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Thyrocerebrorenal syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Thyrocerebrorenal syndrome

\Procedure related finding\Evaluation finding\...

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...

\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome

\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thyrocerebrorenal syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Thyrocerebrorenal syndrome
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Thyrocerebrorenal syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Thyrocerebrorenal syndrome

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

3498744016 Thyrocerebrorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498745015 Cutler Bass Romshe syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498746019 Thyrocerebrorenal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499975011 Syndrome with characteristics of renal, neurologic and thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. 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
Thyrocerebrorenal syndrome	Is a	Disorder of thyroid gland	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Thyrocerebrorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Thyrocerebrorenal syndrome	Finding site	Thyroid structure	true	Inferred relationship	Some	5
Thyrocerebrorenal syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Thyrocerebrorenal syndrome	Interprets	Platelet count	true	Inferred relationship	Some	6
Thyrocerebrorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	7
Thyrocerebrorenal syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	7
Thyrocerebrorenal syndrome	Finding site	Cerebrum	true	Inferred relationship	Some	4
Thyrocerebrorenal syndrome	Is a	Congenital thrombocytopenia (disorder)	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Thyrocerebrorenal syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	2
Thyrocerebrorenal syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets