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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
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chudley McCullough syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progeroid and marfanoid aspect, lipodystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial infantile gigantism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Distal Xq28 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pitt Hopkins-like syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness with onychodystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Flat face, microstomia, ear anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Emery Nelson syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Rare non-syndromic intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Piebald trait with neurologic defects syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Peripheral dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pancytopenia with developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trichorhinophalangeal syndrome type 1 and 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary elliptocytosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mullerian aplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant familial wooly hair Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive familial wooly hair Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macular corneal dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Erythrokeratodermia variabilis Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type I Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type II Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type IV Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blue cone monochromatism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Periventricular nodular heterotopia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial hypospadias of penis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive asexual dwarfism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked asexual dwarfism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary camptodactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Antley-Bixler syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive aplasia cutis congenita of limb Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hypophosphatemic bone disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
17q23.1-q23.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Coralliform cataract Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocardiofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bilateral frontoparietal polymicrogyria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megalencephaly capillary malformation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type D Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant polycystic liver disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Jackson-Weiss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Saethre-Chotzen syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial spinal neurofibromatosis Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Type 3 lissencephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Genochondromatosis type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type 5 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked congenital generalized hypertrichosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Wrinkly skin syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fibrous skin tumor of tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pulmonary tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ash leaf spot, tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
17q11 deletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital epithelial dysplasia of intestine Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Amish lethal microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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