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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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie ectodermique hidrotique type Halal est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotonia cystinuria syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Homocystinuria without methylmalonic aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypertryptophanemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Robinow-like syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness and myopia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatic lipase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adult polyglucosan body disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile primary lateral sclerosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Iron-refractory iron deficiency anemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kapur Toriello syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to prohormone convertase I deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 5 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 6 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 7 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculotrichodysplasia (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Catel Manzke syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de pseudo-infection intra-utérine congénitale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal erythroderma (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ganglioside GM3 synthase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Furhmann est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Galloway Mowat syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome oro-facio-digital type 5 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pacman dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Perlman syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ackerman syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dystonia 16 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Toriello Carey syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Laryngo-onycho-cutaneous syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile dystonia parkinsonism (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to acid maltase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ethylmalonic encephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypercholanemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
FADD-related immunodeficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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