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363070008: Developmental hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

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

2064 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Atelosteogenesis Is a True Developmental hereditary disorder Inferred relationship Some
Amelogenesis imperfecta 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 Is a True Developmental hereditary disorder Inferred relationship Some
Fatal congenital nonlysosomal heart glycogenosis 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 Is a True Developmental hereditary disorder Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Is a True Developmental hereditary disorder Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, SBBYS type Is a True Developmental hereditary disorder Inferred relationship Some
Oculofaciocardiodental syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Myhre syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Renpenning syndrome 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 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 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
X-linked intellectual disability-psychosis-macroorchidism 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 Is a True Developmental hereditary disorder Inferred relationship Some
Genitopatellar syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Inclusion body myopathy 2 Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a True Developmental hereditary disorder Inferred relationship Some
McKusick Kaufman syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Partington syndrome Is a True Developmental hereditary disorder Inferred relationship Some
RAPADILINO syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Snyder type Is a True Developmental hereditary disorder Inferred relationship Some
Hand-foot-genital syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fryns syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a True Developmental hereditary disorder Inferred relationship Some
Lethal ataxia-deafness-optic atrophy 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 Is a True Developmental hereditary disorder Inferred relationship Some
Warsaw breakage syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
CASK related intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Ophthalmo-acromelic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ear, patella, short stature syndrome 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 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 encephalocoele Is a True Developmental hereditary disorder Inferred relationship Some
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Is a True Developmental hereditary disorder Inferred relationship Some
Ectopia lentis et pupillae Is a True Developmental hereditary disorder Inferred relationship Some
Partial pancreatic agenesis Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type B2 Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation Is a True Developmental hereditary disorder Inferred relationship Some
Familial bicuspid aortic valve Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Alazami type 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 Is a True Developmental hereditary disorder Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital Horner syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Desmin-related myofibrillar myopathy Is a True Developmental hereditary disorder Inferred relationship Some
3q27.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Optic atrophy, intellectual disability syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
11p15.4 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ectrodactyly polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Edinburgh malformation syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Is a True Developmental hereditary disorder Inferred relationship Some

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