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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
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2110 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 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
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Amaurosis hypertrichosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with type D brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hydrolethalus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Fuhrmann syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Galloway Mowat syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Juberg Marsidi syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Schilbach Rott syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Limb mammary syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Kapur Toriello syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome Is a True Developmental hereditary disorder Inferred relationship Some
MEHMO syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculotrichodysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Odontoleukodystrophy (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 5 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Osteocraniostenosis (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Parastremmatic dwarfism (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Perlman syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ackerman syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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