363070008: Developmental hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Developmental hereditary disorder

\Developmental disorder\Developmental hereditary 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)
1910901000052112	ärftlig utvecklingsstörning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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	True	Developmental hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	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	True	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	True	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	True	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	True	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	True	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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