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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
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. 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
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations 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
Carpenter's syndrome 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
excès apparent de minéralocorticoïdes 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 False 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 rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as 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
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. 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
Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP). 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
Spastic paraplegia type 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 (disorder) 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
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. 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
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. Is a False Autosomal recessive hereditary disorder Inferred relationship Some
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Is a False Autosomal recessive hereditary disorder Inferred relationship Some
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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