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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
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
707591000077118 trouble héréditaire du développement (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


2021 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Developmental hereditary disorder est un(e) (attribut) trouble du développement true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Sotos' syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Robinow syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Grebe syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Baller-Gerold syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Stickler syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Lowe syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Cleidocranial dysostosis est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Acrodysostosis est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Rothmund-Thomson syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Maroteaux-Lamy syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Pendred's syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
acro-céphalo-syndactylie de type V est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
X-linked hydrocephalus syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Aase syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Dyskeratosis congenita est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
dystrophie thoracique asphyxiante est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Gardner syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Epidermolysis bullosa est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Jarcho-Levin syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Glycogenosis with glucoaminophosphaturia est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Turcot syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Larsen syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Alstrom syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Immotile cilia syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Achondroplasia est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Zellweger syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Shwachman syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
fond d'œil albinique (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Cohen (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
chondrodysplasie ponctuée rhizomélique est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
achromatopsie (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Diastrophic dysplasia (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
pseudohypoparathyroïdie type 1A (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Aicardi's syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Marinesco-Sjögren est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Opitz-Frias syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Beckwith-Wiedemann est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Treacher Collins syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Dyggve-Melchior-Clausen syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Lethal Kniest-like syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
dysplasie olfactogénitale est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Rolland-Debuqois syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Multiple gastrointestinal atresias est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Asymmetric crying face association (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Werner (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
dysplasie spondylo-épiphysaire tardive (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
dysplasie de Kniest (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
lentiginose périorificielle avec polypose viscérale est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Cockayne syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
maladie de Rendu-Osler est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Polyostotic fibrous dysplasia of bone est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Familial adrenocortical hypoplasia est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Laron-type isolated somatotropin defect est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Pachyonychia congenita syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
anémie de Fanconi (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Hyperphosphatasaemia with intellectual disability est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome d'Adams-Oliver (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Oligohydramnios sequence est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Dubin-Johnson est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Polycystic kidney disease, infantile type est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Crouzon syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Rubinstein-Taybi (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
maladie de von Hippel-Lindau (trouble) est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
syndrome de Waardenburg (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Roberts-SC phocomelia syndrome (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Osteosclerosis (disorder) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Fibrochondrogenesis est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Centrofacial lentiginosis syndrome est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Schinzel-Giedion syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome prune belly (trouble) est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
syndrome de Bardet-Biedl est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
XTE syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Tuberous sclerosis syndrome est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some
Distichiasis-lymphedema syndrome est un(e) (attribut) False Developmental hereditary disorder Inferred relationship Some
Fragile X syndrome est un(e) (attribut) True Developmental hereditary disorder Inferred relationship Some

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