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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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2127 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
Distichiasis-lymphedema syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Fragile X syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Dentin dysplasia, type II Is a False Developmental hereditary disorder Inferred relationship Some
Multiple lentigines syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Leprechaunism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary vascular fragility Is a True Developmental hereditary disorder Inferred relationship Some
Benign congenital myopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Drash syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Developmental hereditary disorder Inferred relationship Some
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Is a False Developmental hereditary disorder Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Developmental hereditary disorder Inferred relationship Some
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Is a False Developmental hereditary disorder Inferred relationship Some
Laurence-Moon syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital stationary night blindness Is a True Developmental hereditary disorder Inferred relationship Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Is a True Developmental hereditary disorder Inferred relationship Some
Cryptophthalmos syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital blue dot cataract Is a True Developmental hereditary disorder Inferred relationship Some
Axenfeld anomaly Is a True Developmental hereditary disorder Inferred relationship Some
Total intestinal aganglionosis Is a True Developmental hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type I Is a True Developmental hereditary disorder Inferred relationship Some
Goldenhar syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dysplasia epiphysealis hemimelica Is a True Developmental hereditary disorder Inferred relationship Some
Metachondromatosis Is a True Developmental hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Focal dermal hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Gorlin-Chaudhry-Moss syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculo-palato-digital syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Multiple pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Noonan's syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Odontotrichomelic syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary clubbing (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dysostosis multiplex group Is a False Developmental hereditary disorder Inferred relationship Some
Congenital sutural cataract Is a True Developmental hereditary disorder Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Brachyolmia Is a True Developmental hereditary disorder Inferred relationship Some
Acromicric dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Desbuquois syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Geroderma osteodysplastica Is a True Developmental hereditary disorder Inferred relationship Some
Francois syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Marie Unna syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary splenic hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Floating-Harbor syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Kabuki make-up syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Inherited arthrogryposis Is a True Developmental hereditary disorder Inferred relationship Some
Incontinentia pigmenti syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital adrenal hypoplasia, X-linked (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Andersen Tawil syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lenz microphthalmia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type I (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
brevicollis congénital Is a False Developmental hereditary disorder Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blomstrand dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrokeratosis verruciformis of Hopf (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Nicolaides-Baraitser syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary mucoepithelial dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False Developmental hereditary disorder Inferred relationship Some
Chudley Lowry Hoar syndrome Is a False Developmental hereditary disorder Inferred relationship Some
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Is a True Developmental hereditary disorder Inferred relationship Some
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Is a True Developmental hereditary disorder Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Is a True Developmental hereditary disorder Inferred relationship Some
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Is a False Developmental hereditary disorder Inferred relationship Some
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Is a True Developmental hereditary disorder Inferred relationship Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Is a True Developmental hereditary disorder Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Is a True Developmental hereditary disorder Inferred relationship Some
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Is a True Developmental hereditary disorder Inferred relationship Some
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Developmental hereditary disorder Inferred relationship Some
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. Is a True Developmental hereditary disorder Inferred relationship Some
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. Is a False Developmental hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. Is a True Developmental hereditary disorder Inferred relationship Some
A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. Is a True Developmental hereditary disorder Inferred relationship Some
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Is a True Developmental hereditary disorder Inferred relationship Some
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Is a True Developmental hereditary disorder Inferred relationship Some
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Is a True Developmental hereditary disorder Inferred relationship Some
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Is a True Developmental hereditary disorder Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a True Developmental hereditary disorder Inferred relationship Some
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Is a True Developmental hereditary disorder Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Is a True Developmental hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Is a True Developmental hereditary disorder Inferred relationship Some
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Is a True Developmental hereditary disorder Inferred relationship Some

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