FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

63702009: syndroom van Alström (aandoening)

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

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Alstrom syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Alstrom syndrome

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Alstrom syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Alstrom syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alstrom syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alstrom syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Alstrom syndrome

\Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Alstrom syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alstrom syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Alstrom syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alstrom syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alstrom syndrome
\Disease\Obesity (disorder)\Alstrom syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Alstrom syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Alstrom syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alstrom syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Alstrom syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Alstrom syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Insulin resistance (disorder)\Alstrom syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Alstrom syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Alstrom syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alstrom syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Alstrom syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Alstrom syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Disorder of endocrine pancreas\Hyperinsulinism\Alstrom syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Alstrom syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Alstrom syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Malabsorption of glucose\Insulin resistance (disorder)\Alstrom syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Insulin resistance (disorder)\Alstrom syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Hyperinsulinism\Alstrom syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport\Malabsorption of glucose\Insulin resistance (disorder)\Alstrom syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Alstrom syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Alstrom syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alstrom syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Alstrom syndrome	Is a	Metabolic disease	false	Inferred relationship	Some
Alstrom syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Alstrom syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Alstrom syndrome	Is a	Degeneration of retina	false	Inferred relationship	Some
Alstrom syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Alstrom syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Alstrom syndrome	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Alstrom syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	2
Alstrom syndrome	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Alstrom syndrome	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Alstrom syndrome	Is a	Congenital anomaly of visual system	false	Inferred relationship	Some
Alstrom syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Alstrom syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Alstrom syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Alstrom syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	2
Alstrom syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Alstrom syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Alstrom syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Alstrom syndrome	Has definitional manifestation	Sensorineural hearing loss	false	Inferred relationship	Some
Alstrom syndrome	Has definitional manifestation	Obesity (disorder)	false	Inferred relationship	Some
Alstrom syndrome	Has definitional manifestation	Multiple organ failure	false	Inferred relationship	Some
Alstrom syndrome	Has definitional manifestation	Retinal dystrophy	false	Inferred relationship	Some
Alstrom syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Alstrom syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	1
Alstrom syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Alstrom syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Alstrom syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	3
Alstrom syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Alstrom syndrome	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Alstrom syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Alstrom syndrome	Is a	Retinal dystrophy	false	Inferred relationship	Some
Alstrom syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Alstrom syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Alstrom syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Alstrom syndrome	Is a	Obesity (disorder)	true	Inferred relationship	Some
Alstrom syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Alstrom syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Alstrom syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Alstrom syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Alstrom syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hereditary metabolic disease	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Alstrom syndrome	Is a	Decreased hearing (finding)	true	Inferred relationship	Some
Alstrom syndrome	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Alstrom syndrome	Is a	Insulin resistance (disorder)	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hyperinsulinism	true	Inferred relationship	Some
Alstrom syndrome	Finding site	Endocrine pancreatic structure	true	Inferred relationship	Some	6
Alstrom syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	4
Alstrom syndrome	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
Alstrom syndrome	Is a	Hereditary metabolic disease	false	Inferred relationship	Some
Alstrom syndrome	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105880017	Alstrom syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
803015011	Alstrom syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
354371000146111	syndroom van Alström	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
354381000146113	syndroom van Alström (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10300621000146114	Progressieve erfelijke aandoening, die gewoonlijk begint met lichtgevoeligheid in de kleutertijd, wat leidt tot ontsteking van het netvlies en blindheid; andere symptomen zijn ontsteking van de hartspier, overgewicht, gehoorstoornissen, diabetes en nieraandoeningen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)