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
Oguchi's disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Total intestinal aganglionosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Odontotrichomelic syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atelosteogenesis type 2	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pseudodiastrophic dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Desbuquois syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Francois syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oligohydramnios sequence	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Gelatinous droplike corneal dystrophy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Blomstrand dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive familial woolly hair	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive pseudoxanthoma elasticum (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ehlers-Danlos' syndrom, recessiv type 4	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Achromatopsia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Seckel syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Werner syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Grebe syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ehlers-Danlos' syndrom, dominant type 4	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
GM1 gangliosidosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta, pigmented hypomaturation type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalised skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diffuse mesangial sclerosis with ocular abnormalities	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Enamel-renal syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Renal dysplasia and retinal aplasia	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Renal tubular acidosis with progressive nerve deafness	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Immotile cilia syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cystic fibrosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cholestasis-edema syndrome, Norwegian type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Selective malabsorption of cyanocobalamin	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease type 2N (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive optic atrophy type 6	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Benign intrahepatic cholestasis type 1	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bartter syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IIA	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IIB (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hyperphosphataemic familial tumoural calcinosis	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Perinatal lethal Gaucher disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
An autosomal recessive subtype of primary pulmonary hypertension which has histological characteristics of widespread fibrous intimal proliferation of septal veins and preseptal venules. There is frequent association with pulmonary capillary dilatation and proliferation and the disease can cause occult alveolar haemorrhage.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal Kniest-like syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acroerythrokeratoderma	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive Robinow syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Type 3 lissencephaly	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Phenylketonuria due to tetrahydrobiopterin deficiency	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Rothmund Thomson syndrome type 1 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Rothmund Thomson syndrome type 2	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Stickler syndrome type 4 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Wrinkly skin syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
The acute neurological form of Gaucher with characteristics of early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. The disease usually presents in infants aged 3 to 6 months with systemic manifestations of hepatosplenomegaly and an early onset and severe neurological syndrome. This is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme, glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, of the spleen and the bone marrow (Gaucher cells). Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital secretory diarrhea, chloride type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hemoglobin C beta thalassemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form.	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Curry-Hall syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive cerebellar ataxia with hypogonadism	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	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
2011611000005111	autosomal recessiv hereditær sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)