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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
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
MECP2 duplication syndrome Is a False 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 False 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 Is a False 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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