778025006: Atypical hypotonia cystinuria syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\General finding of soft tissue\Poor muscle tone\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Atypical hypotonia cystinuria syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Atypical hypotonia cystinuria syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Atypical hypotonia cystinuria syndrome

\Muscle finding\Muscle tone - finding\Poor muscle tone\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Musculoskeletal finding\Poor muscle tone\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Atypical hypotonia cystinuria syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria 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\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Metabolic disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Cystinuria, type 1\Atypical hypotonia cystinuria syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Atypical hypotonia cystinuria syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Atypical hypotonia cystinuria syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737288015 Atypical hypotonia cystinuria syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3737289011 Atypical hypotonia cystinuria syndrome en Synonym Active Case insensitive SNOMED CT core

3737293017 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Case sensitive SNOMED CT core

3777443013 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atypical hypotonia cystinuria syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome	Interprets	Muscle tone	true	Inferred relationship	Some	3
Atypical hypotonia cystinuria syndrome	Is a	Cystinuria, type 1	true	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	2
Atypical hypotonia cystinuria syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Atypical hypotonia cystinuria syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Atypical hypotonia cystinuria syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Atypical hypotonia cystinuria syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Atypical hypotonia cystinuria syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Atypical hypotonia cystinuria syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737288015	Atypical hypotonia cystinuria syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737289011	Atypical hypotonia cystinuria syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3737293017	A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism).	en	Definition	Active	Case sensitive	SNOMED CT core
3777443013	A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism).	en	Definition	Active	Case sensitive	SNOMED CT core