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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
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept)
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chudley McCullough syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nephrocystin 3-related Meckel-like syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Emery Nelson syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Piebald trait with neurologic defects syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysostose, periphere Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal syndrome type 1 and 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mullerian aplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant familial wooly hair Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive familial wooly hair Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macular corneal dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia variabilis (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Focal facial dermal dysplasia type I Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Focal facial dermal dysplasia type II Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Focal facial dermal dysplasia type IV Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Periventricular nodular heterotopia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypospadias of penis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive asexual dwarfism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked asexual dwarfism (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary camptodactyly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
17q23.1-q23.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Coralliform cataract (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocardiofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral frontoparietal polymicrogyria (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic liver disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jackson-Weiss syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Type 3 lissencephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genochondromatosis type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type 5 (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked congenital generalized hypertrichosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Wrinkly skin syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous skin tumor of tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary tuberous sclerosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ash leaf spot, tuberous sclerosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
17q11 deletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intestinal epithelial dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Amish lethal microcephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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