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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

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
4671271000241119 maladie héréditaire récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2100 descendants. Search Descendants:

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 (disorder) 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Francois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Metachromatic leucodystrophy, 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 syndrome, recessive 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 syndrome, 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, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A rare, genetic, epilepsy syndrome characterized by 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 characterized by juvenile-onset of 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 postmortem. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A group of rare, genetic, neurodegenerative diseases characterized by an 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 characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. 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 (disorder) 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 characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized 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
sclérose mésangiale diffuse avec anomalies oculaires 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 characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. 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 form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. 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 characterised by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. 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 (disorder) 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
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by 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 fruste with prominent pachydermia and minimal-to-absent skeletal changes. 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
phénylcétonurie par déficit en tétrahydrobioptérine 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by 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. 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. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. 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
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a 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 with sometimes foamy aspect. 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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