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
Zellweger-like syndrome without peroxisomal anomaly (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
DK phocomelia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Partial agenesis of pancreas (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brittle cornea syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 39 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pyknoachondrogenesis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive cavitating leukoencephalopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lathosterolosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pelviscapular dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus with albinism and digital anomaly syndrome (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal faciocardiomelic dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal recessive chondrodysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal omphalocele with cleft palate syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal Larsen-like syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lelis syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of dimethylglycine dehydrogenase (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital bile acid synthesis defect type 3 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cone dystrophy with supernormal rod response (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
2p21 microdeletion syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Renal dysplasia with limb defect syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Tel Hashomer camptodactyly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Temtamy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Haim Munk syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hemochromatosis type 3 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2B2 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bartter syndrome type 4a (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrofrontofacionasal dysostosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrootoocular syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrorenal mandibular syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrocapitofemoral dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrocephalopolydactyly (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrocraniofacial dysostosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Campomelia Cumming type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 1 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 2 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Adult-onset autosomal recessive sideroblastic anemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Adult-onset dystonia parkinsonism (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Anophthalmia plus syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Attenuated Chédiak-Higashi syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Bosley Salih Alorainy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Braddock syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Brain calcification Rajab type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cenani Lenz syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2H (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Epidermodysplasia verruciformis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cranioosteoarthropathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Craniofacial dyssynostosis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Craniofacial ulnar renal 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)