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363070008: Developmental hereditary disorder (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

2062 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 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
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Amaurosis hypertrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hair defect with photosensitivity and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Heart defect and limb shortening syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Heart-hand syndrome Slovenian type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short fifth metacarpal insulin resistance syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature with webbed neck and congenital heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature due to primary acid labile subunit deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short tarsus with absence of lower eyelashes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Siegler Brewer Carey syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dacryocystitis and osteopoikilosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema hypoparathyroidism syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness, enamel hypoplasia, nail defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dermatoosteolysis Kirghizian type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dermo-odonto dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Developmental malformation, deafness, dystonia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diaphanospondylodysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, bulbous nose syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hidrotic ectodermal dysplasia Halal type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with blindness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with type D brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Holmes Gang syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hunter McAlpine craniosynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus with obesity and hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrolethalus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypergonadotropic hypogonadism with cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fuhrmann syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Galloway Mowat syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Johnson neuroectodermal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism with microtia and facial clefting syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertrichosis and acromegaloid facial appearance syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypomandibular faciocranial dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Juberg Hayward syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Juberg Marsidi syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microphthalmia with brain and digit anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Puerto Rican infant hypotonia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Scalp, ear, nipple syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Schilbach Rott syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Limb mammary syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lowry MacLean syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema, atrial septal defect, facial changes syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema and cerebral arteriovenous anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability with cataract and kyphosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isotretinoin embryopathy-like syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculootoradial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Kapur Toriello syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Karsch Neugebauer syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculopalatocerebral syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculogastrointestinal muscular dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculoosteocutaneous syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculotrichodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Odonto-tricho-ungual-digito-palmar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Odontoleukodystrophy Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 5 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 8 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteocraniostenosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Parastremmatic dwarfism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Perlman syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ackerman syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Agnathia, holoprosencephaly, situs inversus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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