363070008: Developmental hereditary disorder (disorder)

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

\Genetic disease\Hereditary disease\Developmental hereditary disorder

\Developmental disorder\Developmental hereditary disorder

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

Descriptions:

Id Description Lang Type Status Case? Module

482205012 Developmental hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental hereditary disorder	Is a	Hereditary disease	true	Inferred relationship	Existential restriction modifier
Developmental hereditary disorder	Is a	Developmental disorder	true	Inferred relationship	Existential restriction modifier
Developmental hereditary disorder	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

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

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Id	Description	Lang	Type	Status	Case?	Module
482205012	Developmental hereditary disorder	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module