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
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Macrosomia, microphthalmia, cleft palate syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital lethal myopathy Compton North type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Nestor Guillermo progeria syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Craniosynostosis and dental anomalies syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive frontotemporal pachygyria (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Distal arthrogryposis type 5D (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 59	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe neurodegenerative syndrome with lipodystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Neonatal inflammatory skin and bowel disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Transient infantile hypertriglyceridemia and hepatosteatosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Craniofacial dysplasia osteopenia syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pitt Hopkins-like syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pyknodysostosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2R	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Polyglucosan body myopathy type 1 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial angiolipomatosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fatal post-viral neurodegenerative disorder	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acute infantile liver failure with multisystemic involvement syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 14	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 9 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 17 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe intellectual disability and progressive spastic paraplegia	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 27	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ehlers-Danlos syndrome due to tenascin-X deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal polymalformative syndrome Boissel type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Immunodeficiency due to CD25 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cystinuria, type 1	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary CD59 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Susceptibility to viral and mycobacterial infection	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebral atrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Isolated ATP synthase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leydig cell agenesis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 69	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
T-cell receptor alpha-beta-positive T-cell deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 60	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 71	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Chondrodysplasia with joint dislocations gPAPP type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (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)