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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)

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 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 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 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 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 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 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 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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This concept is not in any reference sets

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