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363070008: Developmental hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482205012 Developmental hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2062 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 Existential restriction modifier
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Existential restriction modifier
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Albinism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atelosteogenesis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary progressive muscular dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inherited cutaneous hyperpigmentation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alacrima Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inherited cutis laxa Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fatal congenital nonlysosomal heart glycogenosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Peters plus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Branchiooculofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
SOX2 anophthalmia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Timothy syndrome type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculofaciocardiodental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Myhre syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Renpenning syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Anodontia Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital adrenal hyperplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tarsal-carpal coalition syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dolichospondylic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pitt-Hopkins syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, Strudwick type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylocarpotarsal synostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Persistent Müllerian duct syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial deafness hand syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Genitopatellar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inclusion body myopathy 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual deficit-dystonia-dysarthria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
RAPADILINO syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Snyder type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hand-foot-genital syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fatal X-linked ataxia with deafness and loss of vision Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Auriculo-condylar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
FOXG1 syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Warsaw breakage syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Calcium/calmodulin-dependent serine protein kinase related intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ophthalmo-acromelic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ear, patella, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloenchondrodysplasia with immune dysregulation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progressive epilepsy-intellectual disability syndrome Finnish type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cutis gyrata syndrome of Beare and Stevenson Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Capillary malformation-arteriovenous malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mowat-Wilson syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Manitoba oculotrichoanal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinal detachment and occipital encephalocele Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectopia lentis et pupillae Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Partial agenesis of pancreas Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type B2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial bicuspid aortic valve Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Alazami type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Dauber type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked spondyloepimetaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital Horner syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Desmin-related myofibrillar myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
3q27.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Optic atrophy, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
2p13.2 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sinoatrial node dysfunction and deafness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary inclusion body myopathy type 4 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay with autism spectrum disorder and gait instability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
11p15.4 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial omphalocele syndrome with facial dysmorphism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, progressive neurological defect, endocrinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tetramelic monodactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial tetramelic oligodactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Rhizomelic syndrome Urbach type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cortical dysplasia with focal epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectrodactyly polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Edinburgh malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hallux varus, preaxial polysyndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertrichosis cubiti Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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