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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1928 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
Bamforth Lazarus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bartsocas Papas syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Catel Manzke syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal erythroderma Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hennekam Beemer syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ganglioside GM3 synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fuhrmann syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Galloway Mowat syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pacman dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Perlman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ackerman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dystonia 16 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Toriello Carey syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
LOC syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile dystonia parkinsonism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma Nagashima type 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FADD-related immunodeficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RIN2 syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microlissencephaly micromelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pili torti onychodysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thiamine-responsive encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tangier disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyper-IgM syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type 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 ISG15 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PHAVER syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recessive aplasia cutis congenita of limbs Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Trichothiodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SERKAL syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 46 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 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 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Kufor Rakeb syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Richieri Costa Pereira syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinohepatoendocrinologic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acyl-CoA dehydrogenase 9 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B1 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MOMO syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial myopathy with sideroblastic anaemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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