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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
Distichiasis-lymphedema syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fragile X syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mandibuloacral dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dentin dysplasia, type II Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multiple lentigines syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Leprechaunism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary vascular fragility Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Benign congenital myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hennekam lymphangiectasia-lymphedema syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Drash syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Juvenile hyaline fibromatosis Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Laurence-Moon syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital stationary night blindness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cryptophthalmos syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital blue dot cataract Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Axenfeld anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Total intestinal aganglionosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalosyndactyly type I Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Goldenhar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dysplasia epiphysealis hemimelica Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Metachondromatosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniodiaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Focal dermal hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Gorlin-Chaudhry-Moss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculo-palato-digital syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multiple pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Noonan's syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrotic X-linked ectodermal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Odontotrichomelic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary clubbing Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dysostosis multiplex group Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital sutural cataract Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megacystis, microcolon, hypoperistalsis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pseudodiastrophic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Otospondylomegaepiphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachyolmia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acromicric dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Desbuquois syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Geroderma osteodysplastica Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Francois syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Marie Unna syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary splenic hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Floating-Harbor syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Kabuki make-up syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Inherited arthrogryposis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Incontinentia pigmenti syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Jervell and Lange-Nielsen syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Melnick-Fraser syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital adrenal hypoplasia, X-linked Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with marfanoid habitus Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Andersen Tawil syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oto-onycho-peroneal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lenz microphthalmia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Simpson-Golabi-Behmel syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta type I Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital dystrophia brevicollis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly syndrome type B Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blomstrand dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Raine dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloenchondromatosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Carpotarsal osteochondromatosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrokeratosis verruciformis of Hopf Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nicolaides-Baraitser syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary mucoepithelial dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type II Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary neurocutaneous angiomata Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia punctata of Happle Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chudley Lowry Hoar syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cloverleaf skull with multiple congenital anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebro-oculo-dento-auriculo-skeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus, cardiac malformation, dense bone syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bilateral microtia with deafness and cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharocheilodontic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharonasofacial malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bifid nose, anorectal anomaly, renal anomaly syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Branchiogenic deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated anterior cervical hypertrichosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial median cleft of upper and lower lip Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acromesomelic dysplasia Maroteaux type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Achalasia microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ablepharon macrostomia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Atkin type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 7 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 6 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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