FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive dyskeratosis congenita est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
hyperplasie surrénale congénitale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Antley-Bixler syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Odontohypophosphatasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of aminoacylase 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type Ia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fukuyama congenital muscular dystrophy est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1c (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated hyperchlorhidrosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
neurodégénérescence associée à la protéine de membrane mitochondriale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acral peeling skin syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia type 15 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
dystrophie musculaire congénitale de Walker-Warburg est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Desmosterolosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
atrophodermie vermiculée (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to aldolase A deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to glutathione synthetase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bowen-Conradi syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
ALG12-congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sudden infant death with dysgenesis of testes syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Eosinophil peroxidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypochromic microcytic anemia with iron overload (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bradyopsia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-Methylglutaconic aciduria type 3 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
acidurie 3-méthylglutaconique type 4 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-Methylglutaconic aciduria type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral folate transport deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
neuropathie axonale autosomique récessive avec neuromyotonie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 5 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spinal muscular atrophy with respiratory distress type 1 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
RNA polymerase III-related leukodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of glucosyltransferase 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macular corneal dystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cryptophthalmos syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial aldosterone deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome oto-onycho-péronéal est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Naxos disease est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital epithelial dysplasia of intestine (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 11 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Acrocallosal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Richards-Rundle syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phocomelia Schinzel type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 4 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Retinitis punctata albescens (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bothnia retinal dystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloocular syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia type 1 Toledo type (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit combiné en facteurs V et VIII est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital amegakaryocytic thrombocytopenia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Smith McCort dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital bowing of long bone (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Lysosomal acid lipase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dicarboxylic aminoaciduria syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en citrine est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'hypospadias-déficience intellectuelle type Goldblatt est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tungland Bellman syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early childhood onset retinal dystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital alpha-2-antiplasmin deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
spectre ostéolyse multicentrique-nodulose-arthropathie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

Start Previous Page 9 of 16 Next End

This concept is not in any reference sets

Back to Start