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363070008: Developmental hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

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

2064 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Frank-Ter Haar syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Amaurosis hypertrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type Is a True Developmental hereditary disorder Inferred relationship Some
Oliver syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Siegler Brewer Carey syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dahlberg Borer Newcomer syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Developmental hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Dermatoosteolysis Kirghizian type Is a True Developmental hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hernandez Aguirre Negrete syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type Is a True Developmental hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Developmental hereditary disorder Inferred relationship Some
Holmes Gang syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hydrolethalus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fuhrmann syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Galloway Mowat syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome Is a False Developmental hereditary disorder Inferred relationship Some
GAPO syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Juberg Hayward syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Juberg Marsidi syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Microphthalmia with brain and digit anomaly Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with linear skin defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Qazi Markouizos syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Schilbach Rott syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Say Barber Miller syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Limb mammary syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lowry MacLean syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Lymphoedema and cerebral arteriovenous anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isotretinoin-like syndrome Is a True Developmental hereditary disorder Inferred relationship Some
IVIC syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Kapur Toriello syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculo-palato-cerebral syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a True Developmental hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculotrichodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Odontoleukodystrophy Is a False Developmental hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 5 Is a True Developmental hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 8 Is a True Developmental hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Osteocraniostenosis Is a True Developmental hereditary disorder Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Parastremmatic dwarfism Is a True Developmental hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a True Developmental hereditary disorder Inferred relationship Some
Perlman syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ackerman syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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