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:

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
1910901000052112 ärftlig utvecklingsstörning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
Albinism	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Atelosteogenesis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Amelogenesis imperfecta (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary progressive muscular dystrophy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Alacrima	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Inherited cutis laxa (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fatal congenital nonlysosomal heart glycogenosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Peters plus syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Branchiooculofacial syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
SOX2 anophthalmia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Timothy syndrome type 1 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Myhre syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Renpenning syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Anodontia	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Congenital adrenal hyperplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Tarsal-carpal coalition syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
3-M syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pitt-Hopkins syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, Strudwick type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylocarpotarsal synostosis syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
PPM-X syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Persistent Müllerian duct syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Genitopatellar syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Inclusion body myopathy 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Partington syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
RAPADILINO syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataracts, facial dysmorphism and neuropathy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Arts syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Auriculo-condylar syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
FOXG1 syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Warsaw breakage syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ophthalmo-acromelic syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloenchondrodysplasia with immune dysregulation	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Capillary malformation-arteriovenous malformation syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Char syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mowat-Wilson syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Manitoba oculotrichoanal syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Majeed syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Retinal detachment and occipital encephalocele	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ectopia lentis et pupillae (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Partial agenesis of pancreas (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type B2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial bicuspid aortic valve (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
3q27.3 microdeletion syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Optic atrophy, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
2p13.2 microdeletion syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sinoatrial node dysfunction and deafness	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Developmental delay with autism spectrum disorder and gait instability (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
11p15.4 microduplication syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial omphalocele syndrome with facial dysmorphism (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Tetramelic monodactyly	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Rhizomelic syndrome Urbach type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Edinburgh malformation syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate 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
1910901000052112	ärftlig utvecklingsstörning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)