733096007: Thyrocerebrorenal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome

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

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

\Finding of blood, lymphatics and immune system\Blood disease\...

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

\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Thyrocerebrorenal syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Thyrocerebrorenal syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Thyrocerebrorenal syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Thyrocerebrorenal syndrome
\Finding of head and neck region\Finding of neck region\Finding of thyroid gland\Thyroid disease\Thyrocerebrorenal syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Thyroid disease\Thyrocerebrorenal syndrome

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

\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome

\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\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\Thyrocerebrorenal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thyrocerebrorenal syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Thyrocerebrorenal syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\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\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Thyrocerebrorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Thyrocerebrorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Thyrocerebrorenal syndrome
\Disease\Disorder of neck\Thyroid disease\Thyrocerebrorenal syndrome
\Disease\Disorder of head\Encephalopathy\Thyrocerebrorenal syndrome
\Disease\Congenital disease\Congenital thrombocytopenia\Thyrocerebrorenal syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498744016 Thyrocerebrorenal syndrome en Synonym Active Case insensitive SNOMED CT core

3498745015 Cutler Bass Romshe syndrome en Synonym Active Case sensitive SNOMED CT core

3498746019 Thyrocerebrorenal syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thyrocerebrorenal syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Thyrocerebrorenal syndrome	Interprets	Haemostatic function	true	Inferred relationship	Some	2
Thyrocerebrorenal syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Thyrocerebrorenal syndrome	Is a	Thyroid disease	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Encephalopathy	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	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary thrombocytopenic disorder	true	Inferred relationship	Some
Thyrocerebrorenal syndrome	Is a	Hereditary nephropathy	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	Structure of cerebrum	true	Inferred relationship	Some	4
Thyrocerebrorenal syndrome	Is a	Congenital thrombocytopenia	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
3498744016	Thyrocerebrorenal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498745015	Cutler Bass Romshe syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498746019	Thyrocerebrorenal syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core