85995004: Autosomal recessive hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

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

Descriptions:

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	True	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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Id	Description	Lang	Type	Status	Case?	Module
142575014	Recessive hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
142576010	Hereditary disorder trait, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
2599051000052111	autosomalt recessiv ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)