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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Spondyloepiphyseal dysplasia Nishimura type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger-like syndrome without peroxisomal anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Von Voss-Cherstvoy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
VACTERL syndrome with hydrocephalus Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Partial pancreatic agenesis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brittle cornea syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 39 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia PAPSS2 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Kohn type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyknoachondrogenesis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cavitating leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lathosterolosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pelviscapular dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly with albinism and digital anomaly syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly cardiomyopathy syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal recessive chondrodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal Larsen-like syndrome 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 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of dimethylglycine dehydrogenase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital bile acid synthesis defect type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cone dystrophy with supernormal rod response Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Al-Gazali type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Vici syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome 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
Ulbright Hodes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Van den Ende-Gupta syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tel Hashomer camptodactyly syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Haemochromatosis type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B2 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Alport syndrome autosomal recessive Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypomagnesaemia hypercalciuria nephrocalcinosis with severe ocular involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bartter syndrome type 4a Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microphthalmia with brain atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acro-oto-ocular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrorenal mandibular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocapitofemoral dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolydactyly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocraniofacial dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Campomelia Cumming type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofacial dysostosis Rodriguez type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset dystonia parkinsonism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Anonychia with microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Anophthalmia plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia cutis with myopia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Attenuated Chédiak-Higashi syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Braddock syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brain calcification Rajab type 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2H Is a False Autosomal recessive hereditary disorder Inferred relationship Some
CHIME syndrome 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 anaemia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cooper Jabs syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Corneal cerebellar syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cranio-osteoarthropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dyssynostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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