85995004: Autosomal recessive hereditary disorder (disorder)

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
Chylomicron retention disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined malonic and methylmalonic aciduria	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Childhood myocerebrohepatopathy spectrum (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypomyelination and congenital cataract	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Horizontal gaze palsy with progressive scoliosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Renal tubular dysgenesis (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
RAPADILINO syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fatty acid hydroxylase associated neurodegeneration (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital cataracts, facial dysmorphism and neuropathy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Andermann syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Arginine:glycine amidinotransferase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ataxia with vitamin E deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Kuskokwim syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Warsaw breakage syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta - recessive - rough	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Albinotic fundus	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital dyserythropoietic anemia, type I	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital dyserythropoietic anemia, type II	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Carpenters syndrom	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital myotonia, autosomal recessive form	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
uppenbart mineralkortikoidöverskott	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
GRACILE syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ophthalmo-acromelic syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Trichohepatoenteric syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brody myopathy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Manitoba oculotrichoanal syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Majeed syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Retinal detachment and occipital encephalocele	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile ascending hereditary spastic paralysis (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital transferrin deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive dyskeratosis congenita	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital adrenal hyperplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Odontohypophosphatasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of aminoacylase 1 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation type Ia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation type 1c (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Isolated hyperchlorhidrosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Mitochondrial membrane protein associated neurodegeneration (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acral peeling skin syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
spastisk paraplegi, typ 15	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Desmosterolosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atrophoderma vermiculatum	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bowen-Conradi syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
ALG12-congenital disorder of glycosylation (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Sudden infant death with dysgenesis of testes syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Histiocytosis-lymphadenopathy plus syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Eosinophil peroxidase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypochromic microcytic anemia with iron overload (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bradyopsia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-Methylglutaconic aciduria type 3	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-Methylglutaconic aciduria type 1	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive axonal neuropathy with neuromyotonia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-methylglutaconic aciduria type 5 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebroretinal microangiopathy with calcifications and cysts	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of phosphomannomutase 2 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of glucosyltransferase 1	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Macular corneal dystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cryptophthalmos syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive deafness with stapes fixation (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Naxos disease	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital epithelial dysplasia of intestine (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease type 4 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive distal osteolysis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 11 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrocallosal syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Richards-Rundle syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Phocomelia Schinzel type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Chondrodysplasia punctata Toriello type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oculocutaneous albinism type 4 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
142575014	Recessive hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
142576010	Hereditary disorder trait, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
2599051000052111	autosomalt recessiv ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)