363070008: hereditaire ontwikkelingsstoornis (aandoening)

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
X-linked intellectual disability with seizure and psoriasis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Cabezas type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked mandibulofacial dysostosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked myopathy with excessive autophagy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Vici syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Wilson Turner syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Renal dysplasia with limb defect syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Timothy syndrome type 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Tel Hashomer camptodactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Temtamy syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Haim Munk syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofrontofacionasal dysostosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrootoocular syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acropectoral syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrorenal mandibular syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrorenoocular syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocapitofemoral dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocephalopolydactyly (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocraniofacial dysostosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Palagonia type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acromegaloid facial appearance syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acropectorovertebral dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrorenal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aniridia and absent patella syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aniridia and intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Anophthalmia plus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia cutis with myopia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Arterial dissection and lentiginosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bosley Salih Alorainy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly and arterial hypertension syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A5 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly with syndactyly Zhao type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Braddock syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brain calcification Rajab type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Campomelia Cumming type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 1 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cardiac anomaly and heterotaxy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cardiomyopathy and renal anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cardiospondylocarpofacial syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cenani Lenz syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cooks syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Coxopodopatellar syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cranioosteoarthropathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial conodysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial dyssynostosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial ulnar renal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis Boston type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis Philadelphia type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Czech dysplasia metatarsal type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Chondrodysplasia with disorder of sex development syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebrooculonasal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia of fibula and ectrodactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Filippi syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some

Start Previous Page 4 of 15 Next End

This concept is not in any reference sets

Back to Start

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
6471201000146118	hereditaire ontwikkelingsstoornis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471211000146116	erfelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471221000146114	hereditaire ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)