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:

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
syndrome d'hypertrichose-faciès acromégaloïde	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
syndrome de déficience intellectuelle avec cataracte et cyphose	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 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	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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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
11829571000172111	trouble développemental héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11829581000172114	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157601000172115	erfelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157611000172117	hereditaire ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)