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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
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Familial infantile gigantism (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Distal Xq28 microduplication syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Emery Nelson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Rare non-syndromic intellectual disability (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Piebald trait with neurologic defects syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Peripheral dysostosis Is a False Developmental hereditary disorder Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pancytopenia with developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Trichorhinophalangeal syndrome type 1 and 3 Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary elliptocytosis Is a True Developmental hereditary disorder Inferred relationship Some
Mullerian aplasia Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant familial woolly hair Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive familial woolly hair Is a True Developmental hereditary disorder Inferred relationship Some
Macular corneal dystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Erythrokeratodermia variabilis Is a False Developmental hereditary disorder Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Developmental hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type I Is a True Developmental hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type II Is a True Developmental hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type IV (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blue cone monochromatism (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Woodhouse Sakati syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Periventricular nodular heterotopia Is a True Developmental hereditary disorder Inferred relationship Some
Familial hypospadias of penis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive asexual dwarfism Is a True Developmental hereditary disorder Inferred relationship Some
X-linked asexual dwarfism Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary camptodactyly Is a True Developmental hereditary disorder Inferred relationship Some
Antley-Bixler syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Developmental hereditary disorder Inferred relationship Some
17q23.1-q23.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Coralliform cataract (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrocardiofacial syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Megalencephaly capillary malformation Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type D (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A3 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant polycystic liver disease Is a True Developmental hereditary disorder Inferred relationship Some
Jackson-Weiss syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Saethre-Chotzen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial spinal neurofibromatosis Is a False Developmental hereditary disorder Inferred relationship Some
Type 3 lissencephaly Is a True Developmental hereditary disorder Inferred relationship Some
Genochondromatosis type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked congenital generalized hypertrichosis Is a True Developmental hereditary disorder Inferred relationship Some
Wrinkly skin syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fibrous skin tumor of tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Some
Pulmonary tuberous sclerosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ash leaf spot, tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
17q11 deletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital epithelial dysplasia of intestine (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Amish lethal microcephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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