FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
Oculocutaneous albinism type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
MacDermot Winter syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinitis punctata albescens Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bothnia retinal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylo-ocular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal infantile lactic acidosis with methylmalonic aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia and ectodermal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Reardon Hall Slaney syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fibular aplasia and complex brachydactyly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Toriello type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MORM syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined deficiency of factor V and factor VIII Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zlotogora Ogur syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital amegakaryocytic thrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Smith McCort dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital bowing of long bone Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Lysosomal acid lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Boucher Neuhäuser syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gollop syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dicarboxylic aminoaciduria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Citrin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Goldblatt Wallis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fryns macrocephaly Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nathalie syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Verloes Bourguignon syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chitty Hall Baraitser syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tungland Bellman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Urban Rogers Meyer syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early childhood onset retinal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thomas syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital alpha-2-antiplasmin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pelizaeus Merzbacher like disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubulopathy with encephalopathy and liver failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bietti's crystalline retinopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of leukotriene C4 synthase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia Cayman type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital plasminogen activator inhibitor deficiency type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly syndrome Norman Roberts type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary microcephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital deficiency of alpha-fetoprotein Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Joubert syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperprolinaemia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Behr syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sideroblastic anaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sonoda syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mevalonic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1m Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital analbuminaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Generalised peeling skin syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
COG1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG4 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a True Autosomal recessive hereditary disorder Inferred relationship Some

Start Previous Page 10 of 16 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start