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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
142576010 Hereditary disorder trait, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201252019 Hereditary disorder trait (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201253012 Autosomal recessive hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive popliteal pterygium syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Catel Manzke syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital intrauterine infection-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital lethal erythroderma Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculogastrointestinal muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ganglioside GM3 synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with blindness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fuhrmann syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Galloway Mowat syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pacman dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Perlman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ackerman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dystonia 16 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Toriello Carey syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Laryngo-onycho-cutaneous syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile dystonia parkinsonism Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma Nagashima type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease, type II Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ethylmalonic encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Faciocardiorenal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fallot complex with intellectual disability and growth delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial hypercholanemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis with juvenile macular degeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immunodeficiency due to mutation of FAS-associated protein with death domain gene Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microlissencephaly micromelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pili torti onychodysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thiamine-responsive encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tangier disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hyperimmunoglobulin M syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive retinitis pigmentosa Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis and intellectual disability syndrome Lopes type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Native American myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Talo-patello-scaphoid osteolysis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Recessive dystrophic epidermolysis bullosa Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pierson syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive aplasia cutis congenita of limb Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Trichothiodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thymic, renal, anal, lung dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 44 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 46 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 53 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 54 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 57 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive bestrophinopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 55 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kufor Rakeb syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Seizures and intellectual disability due to hydroxylysinuria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinohepatoendocrinologic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Growth delay due to insulin-like growth factor type 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 1o Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B1 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile malignant osteopetrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neuroectodermal melanolysosomal disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1f Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial myopathy with sideroblastic anemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2a Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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