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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

2097 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 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
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Developmental hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Developmental hereditary disorder Inferred relationship Some
Juvenile hyaline fibromatosis 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
Choanal atresia with radial ray hypoplasia 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 (disorder) 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 (disorder) 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 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 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 (disorder) 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 (disorder) 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-Harbour 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 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
Congenital dystrophia brevicollis (disorder) Is a True 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
Raine dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) 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
Acrocephalopolysyndactyly type II (disorder) 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
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blepharocheilodontic syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blepharonasofacial malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
BRESEK syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isolated anterior cervical hypertrichosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acromesomelic dysplasia Maroteaux type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Abruzzo Erickson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ablepharon macrostomia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 7 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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