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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

2088 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
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
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome 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 False 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 False 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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