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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

2088 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
Autosomal recessive popliteal pterygium syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Catel Manzke syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital intrauterine infection-like syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal erythroderma (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ganglioside GM3 synthase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fuhrmann syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Galloway Mowat syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 5 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pacman dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Perlman syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ackerman syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dystonia 16 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Toriello Carey syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Laryngo-onycho-cutaneous syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile dystonia parkinsonism (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ethylmalonic encephalopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fallot complex with intellectual disability and growth delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypercholanemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FADD-related immunodeficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thiamine-responsive encephalopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tangier disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive retinitis pigmentosa Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Native American myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recessive dystrophic epidermolysis bullosa Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pierson syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Trichothiodystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 46 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive bestrophinopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Kufor Rakeb syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinohepatoendocrinologic syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B1 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile malignant osteopetrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1f (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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