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363070008: Developmental hereditary disorder (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1704881000005117 Hereditær udviklingssygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

1823 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Sonoda syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Sotos' syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Robinow syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Grebe syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Baller-Gerold syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Stickler syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lowe syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cleidocranial dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Acrodysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Rothmund-Thomson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Maroteaux-Lamy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pendred's syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aase syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Marshall-Smith syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dyskeratosis congenita Is a True Developmental hereditary disorder Inferred relationship Some
Jeune thoracic dystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Gardner syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Epidermolysis bullosa Is a True Developmental hereditary disorder Inferred relationship Some
Jarcho-Levin syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Developmental hereditary disorder Inferred relationship Some
Turcot syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Larsen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pelizaeus-Merzbacher disease (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Immotile cilia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Achondroplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Zellweger syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Shwachman syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Albinotic fundus Is a True Developmental hereditary disorder Inferred relationship Some
Cohen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Achromatopsia Is a True Developmental hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Seckel syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Diastrophic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Developmental hereditary disorder Inferred relationship Some
Menkes kinky-hair syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aicardi's syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Marinesco-Sjögren syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Opitz-Frias syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Beckwith-Wiedemann syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Treacher Collins syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True Developmental hereditary disorder Inferred relationship Some
Dyggve-Melchior-Clausen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 Is a False Developmental hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 Is a False Developmental hereditary disorder Inferred relationship Some
Lethal Kniest-like syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Developmental hereditary disorder Inferred relationship Some
Hypogonadism with anosmia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Rolland-Debuqois syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Multiple gastrointestinal atresias Is a True Developmental hereditary disorder Inferred relationship Some
Asymmetric crying face association Is a True Developmental hereditary disorder Inferred relationship Some
Werner syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a True Developmental hereditary disorder Inferred relationship Some
Kniest dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Peutz-Jeghers syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Cockayne syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Osler hemorrhagic telangiectasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Nail-patella syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Proteus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a False Developmental hereditary disorder Inferred relationship Some
Familial adrenocortical hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Laron-type isolated somatotropin defect Is a True Developmental hereditary disorder Inferred relationship Some
Pachyonychia congenita syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fanconi's anemia Is a True Developmental hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Hyperphosphatasaemia with intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Adams-Oliver syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oligohydramnios sequence Is a True Developmental hereditary disorder Inferred relationship Some
Dubin-Johnson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Developmental hereditary disorder Inferred relationship Some
Crouzon syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Schwartz-Jampel syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Rubinstein-Taybi syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Von Hippel-Lindau syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Waardenburg's syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Roberts-SC phocomelia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Osteosclerosis Is a True Developmental hereditary disorder Inferred relationship Some
Fibrochondrogenesis Is a True Developmental hereditary disorder Inferred relationship Some
Centrofacial lentiginosis syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Schinzel-Giedion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Holt-Oram syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Prune belly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bardet-Biedl syndrome Is a True Developmental hereditary disorder Inferred relationship Some
XTE syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Tuberous sclerosis syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Distichiasis-lymphedema syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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