85995004: autosomaal recessieve hereditaire aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

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
Autosomal recessive hereditary disorder	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Galactose epimerase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of galactokinase (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fanconi anemia of complementation group C	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lucey-Driscoll syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of Xaa-Pro dipeptidase	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atypical Krabbe disease due to saposin A deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6A (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hereditary arginine vasopressin resistance (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hereditary arginine vasopressin deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary butyrylcholinesterase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive agammaglobulinemia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
KLHL7-related Bohring Opitz-like syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 11 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 12	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 13	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 14	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloenchondrodysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Citrullinemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Dysequilibrium syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Tyrosinemia type I (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Maternal phenylketonuria	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Glutaryl-CoA oxidase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
AMeD syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Kindler epidermolysis bullosa (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined immunodeficiency due to FCHO1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Glucose-galactose malabsorption	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hereditary motor neuron disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive polycystic kidney disease	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lymphoproliferative syndrome with ITK deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
CACP-syndroom (aandoening)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of interleukin-1 receptor antagonist	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation, type IE (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation, type ID (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive chronic granulomatous disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
adenosinedeaminase-2-deficiëntie	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of 11-beta hydroxysteroid dehydrogenase (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
autosomaal recessieve familiaire geïsoleerde hypoparathyreoïdie	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
autosomaal recessieve geïsoleerde opticusatrofie	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Growth retardation, intellectual developmental disorder and hepatopathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
201251014	Recessive hereditary disorder (autosomal)	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
201252019	Hereditary disorder trait (autosomal)	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
201253012	Autosomal recessive hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828165010	Autosomal recessive hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6188911000146114	autosomaal recessieve hereditaire aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188921000146116	autosomaal recessieve hereditaire aandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188931000146119	autosomaal recessieve erfelijke aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6188941000146110	autosomaal recessieve genetische aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11379711000146115	recessieve aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13083101000146118	Aandoeningen waarbij beide ouders drager zijn van een erfelijke ziekte; het kind heeft 25% kans op de aandoening.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)